ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.5700T>A (p.Asn1900Lys)

gnomAD frequency: 0.00001  dbSNP: rs764330725
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001343961 SCV001537986 uncertain significance Brugada syndrome 2022-05-02 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 1900 of the SCN10A protein (p.Asn1900Lys). This variant is present in population databases (rs764330725, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SCN10A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1040345). 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. 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.
Ambry Genetics RCV002350630 SCV002650577 uncertain significance Cardiovascular phenotype 2023-08-11 criteria provided, single submitter clinical testing The p.N1900K variant (also known as c.5700T>A), located in coding exon 27 of the SCN10A gene, results from a T to A substitution at nucleotide position 5700. The asparagine at codon 1900 is replaced by lysine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004692601 SCV005189615 uncertain significance not provided criteria provided, single submitter not provided

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