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Table 1 List of 35 probably damaging missense variants identified in this sporadic cohort, result of DNA target sequencing

From: Genomic, transcriptomic and RNA editing analysis of human MM1 and VV2 sporadic Creutzfeldt-Jakob disease

VID

Gene

HGVSC

HGVSP

SIFT Prediction

PolyPhen2 prediction

Clinvar annotation

19:1046239:G

ABCA7

c.1456C > G

p.(Pro486Ala)

Deleterious

Probably damaging

NA

19:1047336:A

ABCA7

c.2026G > A

p.(Ala676Thr)

Deleterious

Probably damaging

Benign [single provider]

19:1058635:T

ABCA7

c.5168C > T

p.(Ser1723Leu)

Deleterious

Probably damaging

NA

2:202587783:T

ALS2

c.3685T > A

p.(Trp1229Arg)

Deleterious

Possibly damaging

NA

11:108117787:T

ATM

c.998C > T

p.(Ser333Phe)

Deleterious

Probably damaging

Conflicting interpretations: Uncertain significance(1); Benign(2); Likely benign(12)

1:17312787:A

ATP13A2

c.3472C > T

p.(Arg1158Cys)

Deleterious​

Possibly damaging​

Uncertain significance​

1:207680070:T

CR1

c.313C > T

p.(Arg105Cys)​

Deleterious​

Probably damaging​

NA

1:207739203:T

CR1

c.2537C > T​

p.(Ser846Phe)​

Deleterious​

possibly damaging​

NA

11:88027209:C

CTSC

c.1357A > G​

p.(Ile453Val)​

Deleterious​

possibly damaging​

Benign/Likely benign​

7:143088584:T​

EPHA1​

c.2897G > A​

p.(Arg966His)​

Deleterious​

Probably damaging​

NA

7:143092269:A​

EPHA1​

c.2090C > T​

p.(Pro697Leu)​

Deleterious​

Possibly damaging​

NA

17:42427095:A​

GRN​

c.325G > A​

p.(Gly109Arg)​

Deleterious​

Probably damaging​

Uncertain significance

2:74759825:A​

HTRA2​

c.1195G > A​

p.(Gly399Ser)​

Deleterious​

Probably damaging​

Benign/Likely benign

5:126158560:T​

LMNB1​

c.1474G > T​

p.(Ala492Ser)​

Deleterious​

possibly Damaging​

NA

19:45375208:T​

NECTIN2​

c.577C > T​

p.(Arg193Trp)​

Deleterious​

Probably damaging​

NA

4:170398474:C​

NEK1​

c.2235T > G​

p.(Asn745Lys)​

Deleterious​

Probably damaging​

Conflicting interpretations: Likely pathogenic(1); Benign(3); Likely benign(2)

7:37923923:C​

NME8​

c.1013T > C​

p.(Ile338Thr)​

Deleterious​

Probably damaging​

Benign

7:37924854:A​

NME8​

c.1247G > A​

p.(Ser416Asn)​

Deleterious​

Probably damaging​

NA

7:37936557:A​

NME8​

c.1630G > A​

p.(Ala544Thr)​

Deleterious​

Probably damaging​

Benign/Likely benign​

19:15273335:T​

NOTCH3​

c.5854G > A​

p.(Val1952Met)​

Deleterious​

Probably damaging​

Benign/Likely benign​

19:15289863:A​

NOTCH3​

c.3691C > T​

p.(Arg1231Cys)​

Deleterious​

Possibly damaging​

Conflicting interpretations: Pathogenic(2); Uncertain significance(5)

19:15290917:A​

NOTCH3​

c.3293C > T​

p.(Thr1098Ile)​

Deleterious​

Possibly damaging​

NA

20:3888719:A​

PANK2​

c.775G > A​

p.(Gly259Arg)​

Deleterious​

Probably Damaging​

NA

1:20976976:A​

PINK1​

c.1538G > A​

p.(Gly513Asp)​

Deleterious​

Probably damaging​

NA

22:38539240:A​

PLA2G6​

c.481C > T​

p.(Arg161Cys)​

Deleterious​

Probably damaging​

Uncertain significance​

15:89865073:C​

POLG​

c.2492A > G​

p.(Tyr831Cys)​

Deleterious​

Possibly damaging​

Benign/Likely benign​

6:161781201:A​

PRKN​

c.1204C > T​

p.(Arg402Cys)​

Deleterious​

Probably damaging​

Conflicting interpretations: Uncertain significance(2); Benign(1)

14:93119136:A​

RIN3​

c.1742G > A​

p.(Arg581Gln)​

Deleterious​

Probably damaging​

NA

14:93142861:C​

RIN3​

c.2377T > C​

p.(Tyr793His)​

Deleterious​

Possibly damaging​

NA

9:135202325:C​

SETX​

c.4660T > G​

p.(Cys1554Gly)​

Deleterious​

Probably damaging​

Benign/Likely benign​

14:92905737:C​

SLC24A4​

c.377T > C​

p.(Leu126Pro)​

Deleterious​

Probably damaging​

NA

11:2189817:C​

TH​

c.484T > G​

p.(Phe162Val)​

Deleterious​

Possibly damaging​

Uncertain significance​

9:132580901:G​

TOR1A

c.646G > C

p.(Asp216His)

Deleterious

Possibly damaging

Benign

15:62269347:C​

VPS13C

c.2342T > G

p.(Leu781Trp)

Deleterious

Probably damaging

NA

7:100016781:C​

ZCWPW1

c.314A > G

p.(Glu105Gly)

Deleterious

Probably damaging

NA