ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.5751G>T (p.Gln1917His)

gnomAD frequency: 0.00001  dbSNP: rs1259517167
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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 RCV001179266 SCV001343877 uncertain significance Cardiomyopathy 2020-02-10 criteria provided, single submitter clinical testing This missense variant replaces glutamine with histidine at codon 1917 of 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). 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 been identified in 1/31404 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.
Invitae RCV002558904 SCV001569603 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-01-25 criteria provided, single submitter clinical testing
Dept of Medical Biology, Uskudar University RCV003318393 SCV004022038 uncertain significance Long QT syndrome 2024-01-08 criteria provided, single submitter research Criteria: PM2, PP2

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