ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.482T>C (p.Ile161Thr)

gnomAD frequency: 0.00001  dbSNP: rs151201435
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002548585 SCV001563264 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 161 of the CASQ2 protein (p.Ile161Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs151201435, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with CASQ2-related conditions. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV002341785 SCV002639194 uncertain significance Cardiovascular phenotype 2022-09-13 criteria provided, single submitter clinical testing The p.I161T variant (also known as c.482T>C), located in coding exon 4 of the CASQ2 gene, results from a T to C substitution at nucleotide position 482. The isoleucine at codon 161 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002493871 SCV002788706 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 2 2021-08-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003339620 SCV004048938 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2 2023-04-11 criteria provided, single submitter clinical testing

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