ClinVar Miner

Submissions for variant NM_004086.3(COCH):c.362T>C (p.Phe121Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003557821 SCV004296332 pathogenic not provided 2023-12-06 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 121 of the COCH protein (p.Phe121Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with autosomal dominant deafness (PMID: 21046548). It has also been observed to segregate with disease in related individuals. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects COCH function (PMID: 25230692). For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV004369277 SCV004849386 pathogenic Autosomal dominant nonsyndromic hearing loss 9 2024-04-22 criteria provided, single submitter clinical testing

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