ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.3704G>C (p.Gly1235Ala)

dbSNP: rs765263326
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001188035 SCV001354980 uncertain significance Cardiomyopathy 2019-12-03 criteria provided, single submitter clinical testing This missense variant replaces glycine with alanine at codon 1235 of the RYR2 protein. Computational prediction tool suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold ≥0.7, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular 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.
Revvity Omics, Revvity RCV003142111 SCV003820585 uncertain significance not provided 2021-09-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004010254 SCV004817054 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2023-03-04 criteria provided, single submitter clinical testing This missense variant replaces glycine with alanine at codon 1235 of the RYR2 protein. Computational prediction tool suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >=0.7, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular 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.

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