ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.1671C>G (p.His557Gln)

dbSNP: rs762858787
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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 RCV000208085 SCV000264206 uncertain significance Primary dilated cardiomyopathy 2015-07-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399771 SCV002704221 uncertain significance Cardiovascular phenotype 2022-10-11 criteria provided, single submitter clinical testing The p.H557Q variant (also known as c.1671C>G), located in coding exon 11 of the SCN5A gene, results from a C to G substitution at nucleotide position 1671. The histidine at codon 557 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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