ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.14607T>C (p.Ala4869=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004014705 SCV004827633 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-05-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004371952 SCV005037085 likely benign Cardiovascular phenotype 2023-11-23 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004701902 SCV005203283 likely benign not specified 2024-07-08 criteria provided, single submitter clinical testing Variant summary: RYR2 c.14607T>C alters a non-conserved nucleotide resulting in a synonymous change. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 184794 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.14607T>C in individuals affected with RYR2-related conditions and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 3071203). Based on the evidence outlined above, the variant was classified as likely benign.

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