ClinVar Miner

Submissions for variant NM_006514.3(SCN10A):c.599C>T (p.Ala200Val) (rs554062977)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685565 SCV000813050 uncertain significance Brugada syndrome 2019-10-22 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 200 of the SCN10A protein (p.Ala200Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs554062977, ExAC 0.01%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). ClinVar contains an entry for this variant (Variation ID: 565891). This variant has been observed in a family affected with Brugada syndrome and sudden death, in which it was not described to segregate with disease, as well as in two healthy control subjects (PMID: 25691538). Experimental studies have shown that this missense change is associated with diminished cardiac sodium channel current (PMID: 25691538). 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.
Mendelics RCV000987254 SCV001136504 uncertain significance Brugada syndrome 1 2019-05-28 criteria provided, single submitter clinical testing

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