ClinVar Miner

Submissions for variant NM_001743.6(CALM2):c.293A>T (p.Asn98Ile)

dbSNP: rs398124647
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
Invitae RCV000143837 SCV002239461 pathogenic Long QT syndrome 1 2022-07-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Asn98 amino acid residue in CALM2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 24917665, 27100291, 27114410, 27165696, 28335032, 31283864). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Experimental studies have shown that this missense change affects CALM2 function (PMID: 24917665, 30348784). 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. ClinVar contains an entry for this variant (Variation ID: 96721). This variant is also known as D97I. This missense change has been observed in individual(s) with long QT syndrome (PMID: 24917665). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 98 of the CALM2 protein (p.Asn98Ile).
George Lab Vanderbilt University RCV000143837 SCV000114925 probable-pathogenic Long QT syndrome 1 no assertion criteria provided not provided Converted during submission to Likely pathogenic.
OMIM RCV000162068 SCV000212101 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.