ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.3469G>A (p.Gly1157Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000818717 SCV000959345 uncertain significance Brugada syndrome 2018-10-24 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 1158 of the SCN5A protein (p.Gly1158Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with irritable bowel syndrome and a suggestive Brugada-type ECG pattern (PMID: 24613995). Experimental studies have shown that this missense change results in decreased channel activation kinetics (PMID: 24613995). 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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