ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.177G>A (p.Pro59=)

gnomAD frequency: 0.00016  dbSNP: rs371260149
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150231 SCV000197215 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Pro59Pro in exon 1 of CASQ2: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 1/3738 African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS;rs371260149). Pro59Pro in exon 1 of CASQ2 (rs371 260149; allele frequency = 1/3738) **
Labcorp Genetics (formerly Invitae), Labcorp RCV002516018 SCV000637644 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2025-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399521 SCV002713426 likely benign Cardiovascular phenotype 2022-02-17 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.
Genome-Nilou Lab RCV003338427 SCV004048980 likely benign Catecholaminergic polymorphic ventricular tachycardia 2 2023-04-11 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.