ClinVar Miner

Submissions for variant NM_181703.4(GJA5):c.259A>T (p.Thr87Ser)

dbSNP: rs1557943770
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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 RCV000691421 SCV000819199 uncertain significance Atrial standstill 1; Atrial fibrillation, familial, 11 2018-06-12 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with GJA5-related disease. This sequence change replaces threonine with serine at codon 87 of the GJA5 protein (p.Thr87Ser). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and serine.

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