ClinVar Miner

Submissions for variant NM_144672.4(OTOA):c.1879C>T (p.Pro627Ser)

gnomAD frequency: 0.00004  dbSNP: rs587777133
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002281927 SCV002571314 uncertain significance not provided 2022-03-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23173898, 24963352, 31527525)
Payam Genetics Center, General Welfare Department of North Khorasan Province RCV000087055 SCV003918902 pathogenic Autosomal recessive nonsyndromic hearing loss 22 2023-03-01 criteria provided, single submitter clinical testing The OTOA c.1879C>T (p.Pro627Ser) is a missens mutation and results at the protein level is a disfunctional or truncated protein, predicted lead to disease.This variant is not present in Iranian population databases. This variant as Pathogenic according to the ACMG classification.
Labcorp Genetics (formerly Invitae), Labcorp RCV002281927 SCV004297686 pathogenic not provided 2024-01-18 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 627 of the OTOA protein (p.Pro627Ser). This variant is present in population databases (rs587777133, gnomAD 0.03%). This missense change has been observed in individuals with deafness (PMID: 23173898). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 100655). 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. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000087055 SCV000119869 pathogenic Autosomal recessive nonsyndromic hearing loss 22 2013-09-01 no assertion criteria provided literature only

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