Submissions for variant NM_001232.4(CASQ2):c.757C>T (p.Arg253Cys)

dbSNP: rs727504510

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002388632	SCV002668644	uncertain significance	Cardiovascular phenotype	2022-09-30	criteria provided, single submitter	clinical testing	The p.R253C variant (also known as c.757C>T), located in coding exon 7 of the CASQ2 gene, results from a C to T substitution at nucleotide position 757. The arginine at codon 253 is replaced by cysteine, an amino acid with highly dissimilar properties. This variant was detected in an arrhythmia genetic testing cohort; however, clinical details were limited, and additional cardiac variants were detected in some cases (van Lint FHM et al. Neth Heart J, 2019 Jun;27:304-309). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Clinical Genetics, Academic Medical Center	RCV001699946	SCV001925625	uncertain significance	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001699946	SCV001928011	uncertain significance	not provided		no assertion criteria provided	clinical testing