ClinVar Miner

Submissions for variant NM_181703.4(GJA5):c.278T>C (p.Met93Thr)

dbSNP: rs1663872343
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001342377 SCV001536305 uncertain significance Atrial standstill 1; Atrial fibrillation, familial, 11 2020-08-26 criteria provided, single submitter clinical testing 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). This sequence change replaces methionine with threonine at codon 93 of the GJA5 protein (p.Met93Thr). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GJA5-related conditions.

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