ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.559A>G (p.Thr187Ala)

gnomAD frequency: 0.00001  dbSNP: rs869025517
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208056 SCV000264200 uncertain significance Cardiac arrest 2015-09-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005208555 SCV000545090 likely pathogenic not provided 2016-08-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Likely Pathogenic. This variant identified in the SCN5A gene is located in the transmembrane spanning DI-S2/S3 region of the resulting protein (PMID: 25348405), Experimental evidence suggests that this variant results in a non-functional SCN5A protein with lack of cell surface expression and sodium current (PMID: 20539757, 16325048). This variant has been reported in an individual with Brugada syndrome which was inherited from his affected mother (PMID: 16325048). ClinVar contains an entry for this variant (Variation ID: 222801). This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with alanine at codon 187 of the SCN5A protein (p.Thr187Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine.

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