ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.101C>G (p.Thr34Arg)

gnomAD frequency: 0.00001  dbSNP: rs1025338659
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001363942 SCV001560074 uncertain significance Brugada syndrome 2020-04-27 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SCN10A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with arginine at codon 34 of the SCN10A protein (p.Thr34Arg). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and arginine.
Mayo Clinic Laboratories, Mayo Clinic RCV002261355 SCV002542046 uncertain significance not provided 2022-02-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004036895 SCV005024919 uncertain significance Cardiovascular phenotype 2024-07-26 criteria provided, single submitter clinical testing The c.101C>G (p.T34R) alteration is located in exon 1 (coding exon 1) of the SCN10A gene. This alteration results from a C to G substitution at nucleotide position 101, causing the threonine (T) at amino acid position 34 to be replaced by an arginine (R). 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.