Variant: NM_206933.3(USH2A):c.6446C>A (p.Pro2149Gln)

CA354063

224753 (ClinVar)

Gene: USH2A

Condition: Usher syndrome

Inheritance Mode: Autosomal recessive inheritance

UUID: ba64373e-1f84-4b4e-9c18-a3c165795d50

HGVS expressions

NM_206933.3:c.6446C>A
NM_206933.3(USH2A):c.6446C>A (p.Pro2149Gln)
NC_000001.11:g.216000442G>T
CM000663.2:g.216000442G>T
NC_000001.10:g.216173784G>T
CM000663.1:g.216173784G>T
NC_000001.9:g.214240407G>T
NG_009497.1:g.427955C>A
NG_009497.2:g.428007C>A
NM_206933.2:c.6446C>A
NM_206933.4:c.6446C>A
ENST00000307340.7:c.6446C>A

Likely Pathogenic

• Met criteria codes: PM3_Strong PP4 PM2

Expert Panel

Hearing Loss VCEP

Criteria Specification Information

Evidence submitted by expert panel

Hearing Loss VCEP

The c.6446C>A (p.Pro2149Gln) variant in USH2A was absent from gnomAD (PM2). It has been detected in one patient with Usher syndrome and one patient with isolated Retinitis pigmentosa, both of whom carried another suspected pathogenic variant in trans (PM3_Strong; PP4; PMIDs: 26872967, 29074561, 28041643; ClinVar ID: 2356). In summary, this variant meets criteria to be classified as likely pathogenic for autosomal recessive Usher syndrome based on the ACMG/AMP criteria applied as specified by the Hearing Loss Expert Panel: PM2, PM3_Strong, PP4.

Met criteria codes

• PM2: Absent from gnomAD v2.1.1 and v3

Approved on: 2020-05-26

Published on: 2020-05-26