ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.3580A>T (p.Thr1194Ser)

gnomAD frequency: 0.00001  dbSNP: rs780945258
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001371836 SCV001568418 uncertain significance Brugada syndrome 2023-08-24 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 not expected to disrupt SCN10A protein function. ClinVar contains an entry for this variant (Variation ID: 1062152). This variant has not been reported in the literature in individuals affected with SCN10A-related conditions. This variant is present in population databases (rs780945258, gnomAD 0.006%). This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 1194 of the SCN10A protein (p.Thr1194Ser).
Ambry Genetics RCV002456584 SCV002614128 uncertain significance Cardiovascular phenotype 2024-08-27 criteria provided, single submitter clinical testing The c.3580A>T (p.T1194S) alteration is located in exon 20 (coding exon 20) of the SCN10A gene. This alteration results from a A to T substitution at nucleotide position 3580, causing the threonine (T) at amino acid position 1194 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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