ClinVar Miner

Submissions for variant NM_001232.3(CASQ2):c.198G>A (p.Thr66=) (rs74114618)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768706 SCV000900076 benign Cardiomyopathy 2017-08-11 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000037137 SCV000335081 benign not specified 2015-09-29 criteria provided, single submitter clinical testing
GeneDx RCV000037137 SCV000167534 benign not specified 2014-02-11 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.
Illumina Clinical Services Laboratory,Illumina RCV000330428 SCV000347688 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000585900 SCV000697790 likely benign not provided 2016-09-06 criteria provided, single submitter clinical testing Variant summary: The CASQ2 c.198G>A (p.Thr66Thr) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 99/121402 control chromosomes (1 homozygote), predominantly observed in the African subpopulation at a frequency of 0.0095137 (99/10406). This frequency is about 2 times the estimated maximal expected allele frequency of a pathogenic CASQ2 variant (0.0044721), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely benign.
Invitae RCV000330428 SCV000559570 benign Catecholaminergic polymorphic ventricular tachycardia 2017-09-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037137 SCV000060794 benign not specified 2012-05-17 criteria provided, single submitter clinical testing Thr66Thr in Exon 01 of CASQ2: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 0.4% (16/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs74114618).

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