ClinVar Miner

Submissions for variant NM_005267.5(GJA8):c.148T>C (p.Ser50Pro)

dbSNP: rs1651877524
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002796061 SCV003200909 uncertain significance Cataract 1 multiple types 2022-05-10 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 50 of the GJA8 protein (p.Ser50Pro). 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. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GJA8-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects GJA8 function (PMID: 16611690, 18003700, 19331825).

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