ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.2710G>A (p.Asp904Asn)

gnomAD frequency: 0.00001  dbSNP: rs774493534
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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 RCV001889825 SCV002139007 uncertain significance Brugada syndrome 2024-12-02 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 904 of the SCN10A protein (p.Asp904Asn). This variant is present in population databases (rs774493534, gnomAD 0.003%). 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: 1377091). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt SCN10A protein function with a positive predictive value of 80%. 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 RCV002425162 SCV002740993 uncertain significance Cardiovascular phenotype 2021-06-23 criteria provided, single submitter clinical testing The p.D904N variant (also known as c.2710G>A), located in coding exon 16 of the SCN10A gene, results from a G to A substitution at nucleotide position 2710. The aspartic acid at codon 904 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV004720959 SCV005329712 uncertain significance not provided 2024-08-01 criteria provided, single submitter clinical testing

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