ClinVar Miner

Submissions for variant NM_181703.4(GJA5):c.913G>A (p.Glu305Lys)

gnomAD frequency: 0.00001  dbSNP: rs782422906
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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 RCV003039301 SCV003330642 uncertain significance Atrial standstill 1; Atrial fibrillation, familial, 11 2022-03-26 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 305 of the GJA5 protein (p.Glu305Lys). 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). This variant is present in population databases (rs782422906, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with GJA5-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.

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