Submissions for variant NM_001035.3(RYR2):c.14756+3G>A

dbSNP: rs1057523295

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000428148	SCV000531386	likely benign	not specified	2016-09-02	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.
Color Diagnostics, LLC DBA Color Health	RCV001524786	SCV001734738	uncertain significance	Cardiomyopathy	2023-07-28	criteria provided, single submitter	clinical testing	This variant causes a G to A nucleotide substitution at the +3 position of intron 103 of the RYR2 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with RYR2-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Ambry Genetics	RCV003372711	SCV004098436	uncertain significance	Cardiovascular phenotype	2023-08-22	criteria provided, single submitter	clinical testing	The c.14756+3G>A intronic variant results from a G to A substitution 3 nucleotides after coding exon 103 in the RYR2 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.