ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.1519G>A (p.Val507Ile) (rs16835270)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000036705 SCV000050785 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036705 SCV000060360 benign not specified 2012-05-10 criteria provided, single submitter clinical testing Val507Ile in exon 16 of RYR2: This variant is not expected to have clinical sign ificance because it has been identified in 3.5% (112/3188) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS/; dbSNP rs16835270)
PreventionGenetics,PreventionGenetics RCV000036705 SCV000306042 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000248505 SCV000319119 benign Cardiovascular phenotype 2014-12-08 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina RCV000332091 SCV000356219 likely benign Arrhythmogenic right ventricular dysplasia, familial, 2 2018-04-05 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV001093850 SCV000356220 likely benign Catecholaminergic polymorphic ventricular tachycardia type 1 2018-04-05 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000388957 SCV000554597 benign Catecholaminergic polymorphic ventricular tachycardia 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000776099 SCV000910919 benign Cardiomyopathy 2018-03-15 criteria provided, single submitter clinical testing

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