ClinVar Miner

Submissions for variant NM_001743.6(CALM2):c.293A>G (p.Asn98Ser) (rs398124647)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001388081 SCV001588928 pathogenic Congenital long QT syndrome 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.
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

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