ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.893A>G (p.Asn298Ser)

gnomAD frequency: 0.00002  dbSNP: rs548536938
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618889 SCV000737991 likely benign Cardiovascular phenotype 2024-03-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV002531789 SCV000813303 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2022-09-12 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 298 of the CASQ2 protein (p.Asn298Ser). This variant is present in population databases (rs548536938, gnomAD 0.02%). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 31983221). ClinVar contains an entry for this variant (Variation ID: 519436). 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) performed at Invitae indicates that this missense variant is not expected to disrupt 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.
GeneDx RCV001591383 SCV001816911 uncertain significance not provided 2024-06-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has been observed in an individual with DCM (PMID: 31983221); This variant is associated with the following publications: (PMID: 31983221)
Fulgent Genetics, Fulgent Genetics RCV002499002 SCV002812714 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 2 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003343953 SCV004050798 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2 2023-04-11 criteria provided, single submitter clinical testing

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