Variants
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rs151115064

  • Uncertain significance

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Description

This sequence change replaces arginine with cysteine at codon 250 of the CASQ2 protein (p.Arg250Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs151115064, ExAC 0.01%). This missense change has been observed in individual(s) with catecholaminergic polymorphic ventricular tachycardia (PMID: 30600839). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 572954). 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: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

Reference Allele

G


Alternative Allele

A

Chromosome

1


Location

115725543


Variant Type

SNP

Genes

ClinVar

Name

NM_001232.4(CASQ2):c.748C>T (p.Arg250Cys)


Allele

A


Clinical Significance

Uncertain significance

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