ClinVar Miner

Submissions for variant NM_021954.4(GJA3):c.439C>T (p.Arg147Trp)

dbSNP: rs755792418
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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 RCV001065379 SCV001230335 uncertain significance Cataract 14 multiple types 2019-01-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with GJA3-related conditions. This variant is present in population databases (rs755792418, ExAC 0.01%). This sequence change replaces arginine with tryptophan at codon 147 of the GJA3 protein (p.Arg147Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. 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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