ClinVar Miner

Submissions for variant NM_006888.6(CALM1):c.157A>G (p.Ile53Val)

dbSNP: rs1555365887
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000548067 SCV000655573 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 4; Long QT syndrome 14 2017-12-03 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). This variant has not been reported in the literature in individuals with a CALM1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with valine at codon 53 of the CALM1 protein (p.Ile53Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine.

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