ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.227C>G (p.Pro76Arg)

dbSNP: rs1345175795
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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 RCV001318130 SCV001508821 uncertain significance not provided 2018-01-11 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SLC26A4-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with arginine at codon 76 of the SLC26A4 protein (p.Pro76Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. Other missense substitutions at this codon (p.Pro76Leu and p.Pro76Ser) have been reported in individuals affected with hearing loss and enlarged vestibular aqueduct (PMID: 17718863, 17851929, 25372295, 27792752). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0").
Fulgent Genetics, Fulgent Genetics RCV005040172 SCV005674150 likely pathogenic Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome 2024-02-10 criteria provided, single submitter clinical testing

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