ClinVar Miner

Submissions for variant NM_181703.4(GJA5):c.325C>T (p.Arg109Trp)

gnomAD frequency: 0.00002  dbSNP: rs782392307
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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 RCV000697922 SCV000826556 uncertain significance Atrial standstill 1; Atrial fibrillation, familial, 11 2021-06-21 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 109 of the GJA5 protein (p.Arg109Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs782392307, ExAC 0.004%). 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with GJA5-related disease.

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