ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.5276T>G (p.Phe1759Cys) (rs1559721331)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692545 SCV000820372 pathogenic Brugada syndrome 2018-06-22 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with cysteine at codon 1760 of the SCN5A protein (p.Phe1760Cys). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual with features of long QT syndrome (Invitae). Experimental studies have shown that this missense change may impair fast inactivation of cardiac sodium channels (PMID: 26150789). For these reasons, this variant has been classified as Pathogenic.

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