ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.13213C>T (p.Leu4405Phe)

gnomAD frequency: 0.00002  dbSNP: rs568257273
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734695 SCV000862856 uncertain significance not provided 2018-08-16 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000774089 SCV000907789 uncertain significance Cardiomyopathy 2021-03-24 criteria provided, single submitter clinical testing This variant is located in the RYR2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 4/234840 chromosomes 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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