ClinVar Miner

Submissions for variant NM_005267.5(GJA8):c.242A>G (p.Gln81Arg)

dbSNP: rs2149015529
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001983814 SCV002278372 uncertain significance Cataract 1 multiple types 2020-12-03 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with arginine at codon 81 of the GJA8 protein (p.Gln81Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. This variant has not been reported in the literature in individuals with GJA8-related conditions. 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 (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 and their clinical significance is uncertain.

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