ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.3849A>G (p.Leu1283=) (rs143603583)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036738 SCV000060393 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Leu1283Leu in Exon 31 of RYR2: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence and has been identified in 0.8% (26/3214) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs143603583).
Ambry Genetics RCV000251756 SCV000319074 benign Cardiovascular phenotype 2016-06-08 criteria provided, single submitter clinical testing
Invitae RCV001086079 SCV000554577 benign Catecholaminergic polymorphic ventricular tachycardia 2019-12-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588234 SCV000697622 benign not provided 2016-09-26 criteria provided, single submitter clinical testing Variant summary: The RYR2 c.3849A>G (p.Leu1283Leu) variant causes a synonymous change involving a non-conserved nucleotide with 4/5 splice prediction tools predict no significant impact on normal splicing, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 90/110716 (1/1230), which significantly exceeds the estimated maximal expected allele frequency for a pathogenic RYR2 variant of 1/40000, suggesting this variant is likely a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications, however, a clinical diagnostic laboratory cites the variant as "benign." Therefore, the variant of interest has been classified as Benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036738 SCV000703809 benign not specified 2016-12-29 criteria provided, single submitter clinical testing
Color RCV000771838 SCV000904552 benign Cardiomyopathy 2018-06-18 criteria provided, single submitter clinical testing

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