ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.988C>G (p.Gln330Glu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002387405 SCV002693245 uncertain significance Cardiovascular phenotype 2024-09-26 criteria provided, single submitter clinical testing The c.988C>G (p.Q330E) alteration is located in exon 10 (coding exon 10) of the CASQ2 gene. This alteration results from a C to G substitution at nucleotide position 988, causing the glutamine (Q) at amino acid position 330 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003094890 SCV003247354 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2024-02-23 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 330 of the CASQ2 protein (p.Gln330Glu). This variant is present in population databases (rs767023791, gnomAD 0.003%). 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: 1768497). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CASQ2 protein function. 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.
Genome-Nilou Lab RCV003348840 SCV004050780 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2 2023-04-11 criteria provided, single submitter clinical testing

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