ClinVar Miner

Submissions for variant NM_005267.5(GJA8):c.97C>T (p.Arg33Trp)

dbSNP: rs587710840
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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 RCV000542930 SCV000644749 uncertain significance Cataract 1 multiple types 2016-08-08 criteria provided, single submitter clinical testing In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. This variant is present in population databases (rs587710840, ExAC 0.01%) but has not been reported in the literature in individuals with a GJA8-related disease. This sequence change replaces arginine with tryptophan at codon 33 of the GJA8 protein (p.Arg33Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan.

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