ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.3491T>C (p.Leu1164Pro)

dbSNP: rs1444949985
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 RCV002041640 SCV002113551 uncertain significance Familial hyperkalemic periodic paralysis 2024-10-12 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1164 of the SCN4A protein (p.Leu1164Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with sodium channel myotonia (PMID: 32849172). ClinVar contains an entry for this variant (Variation ID: 1347346). 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 SCN4A protein function with a positive 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.
Revvity Omics, Revvity RCV003136194 SCV003821323 uncertain significance not provided 2023-01-27 criteria provided, single submitter clinical testing

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.