ClinVar Miner

Submissions for variant NM_198056.2(SCN5A):c.2729C>T (p.Ser910Leu) (rs199473175)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617872 SCV000737644 likely pathogenic Cardiovascular phenotype 2017-02-08 criteria provided, single submitter clinical testing Rarity in general population databases (dbsnp, esp, 1000 genomes);Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Deficient protein function in appropriate functional assay(s);In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Ambry Genetics RCV000624813 SCV000741704 likely pathogenic Inborn genetic diseases 2017-08-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Invitae RCV000058522 SCV001236985 pathogenic Brugada syndrome 2019-12-16 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 910 of the SCN5A protein (p.Ser910Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with Brugada syndrome or sick sinus syndrome (PMID: 11901046, 29574140, 26173111, 24768612, 28104484, 20129283.). ClinVar contains an entry for this variant (Variation ID: 67753). This variant has been reported to affect SCN5A protein function (PMID: 24768612). For these reasons, this variant has been classified as Pathogenic.
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058522 SCV000090042 not provided Brugada syndrome no assertion provided literature only This variant has been reported as associated with Brugada syndrome in the following publications (PMID:11901046;PMID:20129283). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

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