ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.861C>A (p.Ile287=)

gnomAD frequency: 0.00028  dbSNP: rs143718767
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000154688 SCV000167532 benign not specified 2014-01-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154688 SCV000204366 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Ile287Ile in exon 9 of CASQ2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.1% (3/3738) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs143718767).
Ambry Genetics RCV000619244 SCV000735850 likely benign Cardiovascular phenotype 2017-06-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV002514665 SCV000760727 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-01-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003343650 SCV004050804 likely benign Catecholaminergic polymorphic ventricular tachycardia 2 2023-04-11 criteria provided, single submitter clinical testing

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