ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.5131C>T (p.Leu1711Phe)

dbSNP: rs2063114690
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001221932 SCV001394006 uncertain significance Brugada syndrome 2023-08-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 950255). This variant has not been reported in the literature in individuals affected with SCN10A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1711 of the SCN10A protein (p.Leu1711Phe). 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.
Ambry Genetics RCV002348741 SCV002646925 uncertain significance Cardiovascular phenotype 2025-01-19 criteria provided, single submitter clinical testing The c.5131C>T (p.L1711F) alteration is located in exon 27 (coding exon 27) of the SCN10A gene. This alteration results from a C to T substitution at nucleotide position 5131, causing the leucine (L) at amino acid position 1711 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.