Total submissions: 3
| 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 |