ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1171A>C (p.Ser391Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069495 SCV001234664 pathogenic not provided 2019-12-13 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 391 of the SLC26A4 protein (p.Ser391Arg). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and arginine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with deafness and nonsyndromic enlarged vestibular aqueduct (PMID: 23385134, 25372295, 22289209, 19786220, 16570074). It has also been observed to segregate with disease in related individuals. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). For these reasons, this variant has been classified as Pathogenic.

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