ClinVar Miner

Submissions for variant NM_006888.6(CALM1):c.394G>A (p.Asp132Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000792817 SCV000932138 pathogenic Ventricular tachycardia, catecholaminergic polymorphic, 4; Long QT syndrome 14 2018-12-26 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 132 of the CALM1 protein (p.Asp132Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with sudden death and cardiomyopathy (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). This variant disrupts the p.Asp132 amino acid residue in CALM1. Other variant(s) that disrupt this residue have been observed in affected individuals (PMID: 27374306), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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