ClinVar Miner

Submissions for variant NM_001743.6(CALM2):c.293A>G (p.Asn98Ser)

dbSNP: rs398124647
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000143836 SCV001588928 pathogenic Long QT syndrome 1 2020-07-19 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 98 of the CALM2 protein (p.Asn98Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with long QT syndrome or catecholaminergic polymorphic ventricular tachycardia (PMID: 27100291, 24917665, 27114410, 31283864). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 96720). This variant has been reported to affect CALM2 protein function (PMID: 28335032, 27165696). For these reasons, this variant has been classified as Pathogenic.
Dept of Medical Biology, Uskudar University RCV003318349 SCV004021986 pathogenic Long QT syndrome 2024-01-08 criteria provided, single submitter research Criteria: PS3_Moderate PS2_Strong, PM1, PM2, PP3
George Lab Vanderbilt University RCV000143836 SCV000114924 probable-pathogenic Long QT syndrome 1 no assertion criteria provided not provided Converted during submission to Likely pathogenic.
OMIM RCV000162067 SCV000212100 pathogenic Long QT syndrome 15 2014-08-01 no assertion criteria provided literature only

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.