ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.14399_14401del (p.Asp4800_Thr4801delinsAla)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV003533498 SCV004361569 uncertain significance Cardiomyopathy 2023-08-28 criteria provided, single submitter clinical testing This variant replaces two consecutive amino acids (Asp4800, Thr4801) with an alanine residue in exon 100 of the RYR2 protein. 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.

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