ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.971T>C (p.Ile324Thr)

gnomAD frequency: 0.00001  dbSNP: rs369403991
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003103980 SCV001560368 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2021-11-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 324 of the CASQ2 protein (p.Ile324Thr). This variant is present in population databases (rs369403991, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CASQ2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1055546). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV002384518 SCV002695288 uncertain significance Cardiovascular phenotype 2021-05-14 criteria provided, single submitter clinical testing The p.I324T variant (also known as c.971T>C), located in coding exon 10 of the CASQ2 gene, results from a T to C substitution at nucleotide position 971. The isoleucine at codon 324 is replaced by threonine, an amino acid with similar properties. This amino acid position is 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 RCV002493859 SCV002797707 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 2 2021-08-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003346518 SCV004050784 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2 2023-04-11 criteria provided, single submitter clinical testing

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