Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Link to SEPIO compliant JSON-LD document

Variant: NM_194248.3(OTOF):c.1723G>A (p.Val575Met)

CA142762

21826 (ClinVar)

Gene: OTOF

Condition: nonsyndromic genetic deafness

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: a407fa62-fafa-4272-b5a6-e92cfc856ac2

Approved on: 2022-05-13

Published on: 2022-05-13

HGVS expressions

NM_194248.3:c.1723G>A

NM_194248.3(OTOF):c.1723G>A (p.Val575Met)

NC_000002.12:g.26480866C>T

CM000664.2:g.26480866C>T

NC_000002.11:g.26703734C>T

CM000664.1:g.26703734C>T

NC_000002.10:g.26557238C>T

NG_009937.1:g.82833G>A

ENST00000272371.7:c.1723G>A

ENST00000272371.6:c.1723G>A

ENST00000403946.7:c.1723G>A

NM_001287489.1:c.1723G>A

NM_194248.2:c.1723G>A

NM_001287489.2:c.1723G>A

Benign

BA1

Evidence Links 0

Expert Panel

Hearing Loss VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Hearing Loss VCEP

The filtering allele frequency (the lower threshold of the 95% CI of 1269/30610) of the c.1723G>A (p.Val575Met) variant in the OTOF gene is 3.95% for South Asian chromosome in gnomAD v2.1.1, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal recessive hearing loss variants (BA1).

BA1

gnomAD v2.1.1: 3.95% (1269/30610 CI 95%) of South Asian alleles, 45 homozygotes gnomAD v3.1: 3.86% (210/4828 CI 95%) of South Asian alleles, 9 homozygotes

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