ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2468A>C (p.Gln823Pro)

gnomAD frequency: 0.00007  dbSNP: rs753182664
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 RCV000706143 SCV000835177 uncertain significance Hyperkalemic periodic paralysis 2018-05-31 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 disruptive, 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 SCN4A-related disease. This variant is present in population databases (rs753182664, ExAC 0.1%). This sequence change replaces glutamine with proline at codon 823 of the SCN4A protein (p.Gln823Pro). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and proline.
Fulgent Genetics, Fulgent Genetics RCV000764143 SCV000895128 uncertain significance Hypokalemic periodic paralysis, type 1; Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16 2018-10-31 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.