ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.1730T>A (p.Leu577His)

gnomAD frequency: 0.00001  dbSNP: rs1060501716
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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 RCV000472428 SCV000547182 uncertain significance Brugada syndrome 2025-01-01 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with histidine, which is basic and polar, at codon 577 of the SCN10A protein (p.Leu577His). This variant is present in population databases (no rsID available, gnomAD 0.008%). 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: 407752). 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 not expected to disrupt SCN10A protein function with a negative predictive value of 95%. 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 RCV002411452 SCV002715672 uncertain significance Cardiovascular phenotype 2025-03-10 criteria provided, single submitter clinical testing The c.1730T>A (p.L577H) alteration is located in exon 11 (coding exon 11) of the SCN10A gene. This alteration results from a T to A substitution at nucleotide position 1730, causing the leucine (L) at amino acid position 577 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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