ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.12858C>T (p.Ser4286=) (rs185482345)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000778051 SCV000914166 benign Cardiomyopathy 2018-09-28 criteria provided, single submitter clinical testing
GeneDx RCV000182647 SCV000235023 benign not specified 2014-10-31 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.
Integrated Genetics/Laboratory Corporation of America RCV000589602 SCV000697606 benign not provided 2016-10-31 criteria provided, single submitter clinical testing Variant summary: The c.12858C>T (p.Ser4286=) in RYR2 gene is a synonymous change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect a normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in control population dataset of ExAC at a frequency of 0.00009 (11/120046 chrs tested), exclusively in individuals of East Asian descent (0.0013; 11/8480 chrs tested). These frequencies exceed the estimated maximal expected allele frequency of a pathogenic variant in RYR2 gene (0.00005). The variant has not, to our knowledge, been reported in affected individuals , but was cited as Benign by a reputable database/clinical laboratory. Taking together, the variant was classified as Benign.
Invitae RCV000639147 SCV000760712 benign Catecholaminergic polymorphic ventricular tachycardia 2017-12-04 criteria provided, single submitter clinical testing

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