ClinVar Miner

Submissions for variant NM_004086.3(COCH):c.355G>A (p.Ala119Thr) (rs121908931)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Hearing Loss Variant Curation Expert Panel RCV000710321 SCV000840508 uncertain significance Nonsyndromic hearing loss and deafness 2018-09-17 reviewed by expert panel curation The c.355G>A (p.Ala119Thr) variant in COCH has been reported in one Japanese individual with hearing loss, vestibular dysfunction, and a family history of hearing loss though no other affected family members were screened (PS4 not met; PMID: 14512963). The variant was absent from the Genome Aggregation Database (http://gnomad.broadinstitute.org) (PM2). A functional study demonstrates that this variant may not impact protein function (BS3_P; PMID: 25230692). In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel: PM2, BS3_P.
OMIM RCV000006992 SCV000027188 pathogenic Deafness, autosomal dominant 9 2003-10-01 no assertion criteria provided literature only

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