ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.1007C>T (p.Pro336Leu) (rs199473093)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058379 SCV000089899 not provided Brugada syndrome no assertion provided literature only This variant has been reported as associated with Brugada syndrome in the following publications (PMID:17075016;PMID:20129283). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.
Invitae RCV000058379 SCV000933654 uncertain significance Brugada syndrome 2018-12-05 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 336 of the SCN5A protein (p.Pro336Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in one individual affected with Brugada syndrome (PMID: 17075016); however, this variant was present in unaffected family members and the affected individual also carried an additional SCN5A variant. This variant has also been observed in several individuals referred for Brugada syndrome testing (PMID: 20129283). ClinVar contains an entry for this variant (Variation ID: 67624). Experimental studies have shown that this missense change decreases sodium channel peak current (PMID: 17075016). 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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