ClinVar Miner

Submissions for variant NM_181703.4(GJA5):c.793C>T (p.Pro265Ser) (rs148311482)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803226 SCV000943088 uncertain significance Atrial standstill 1; Atrial fibrillation, familial, 11 2020-10-13 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 265 of the GJA5 protein (p.Pro265Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs148311482, ExAC 0.08%). This variant has been observed in several individuals with tetralogy of Fallot (PMID: 22713807). Experimental studies have shown that this missense change affects GJA5 protein function (PMID: 22713807). 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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