Table 5 Unaffected p.Met34Thr or p.Val37Ile homozygotes or compound heterozygotes confirmed by audiology evaluation

From: Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

Site

ID

Var 1 DNA

Var 1 AA

Var 2 DNA

Var 2 AA

Age tested

Family history

Ethnicity

LMM

56s

c.109G>A

p.Val37Ile

c.109G>A

p.Val37Ile

7 years old

Sibling

Asian

NTMC

101

c.109G>A

p.Val37Ile

c.109G>A

p.Val37Ile

28 years old

No

Asian

NTMC

102

c.109G>A

p.Val37Ile

c.109G>A

p.Val37Ile

30 years old

No

Asian

TAU

13

c.101T>C

p.Met34Thr

c.269T>C

p.Leu90Pro

Adult

Unknown

Ashkenazi/Iraqi Jewish

TAU

14

c.101T>C

p.Met34Thr

c.167delT

p.Leu56Argfs

Unknown

Unknown

Ashkenazi Jewish

  1. Individuals without phenotypic information or audiology evaluation are not listed.
Back to article page