ClinVar Miner

Submissions for variant NM_005267.5(GJA8):c.317G>A (p.Arg106His)

gnomAD frequency: 0.00001  dbSNP: rs917690151
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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 RCV000812014 SCV000952312 uncertain significance Cataract 1 multiple types 2018-08-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 106 of the GJA8 protein (p.Arg106His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with GJA8-related disease. This variant is not present in population databases (ExAC no frequency).

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