ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.635C>T (p.Ser212Leu)

gnomAD frequency: 0.00001  dbSNP: rs779471280
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001981800 SCV002225109 uncertain significance Brugada syndrome 2022-05-03 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SCN10A protein function. This missense change has been observed in individual(s) with Brugada syndrome (PMID: 26220970). This variant is present in population databases (rs779471280, gnomAD 0.0009%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 212 of the SCN10A protein (p.Ser212Leu).

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