ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.848+1G>A (rs772984053)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766706 SCV000235248 uncertain significance not provided 2017-09-08 criteria provided, single submitter clinical testing The c.848+1 G>A variant in the RYR2 gene has not been reported as a disease-causing mutation, nor as a benign polymorphism, to our knowledge. The c.848+1 G>A variant destroys the canonical splice donor site in intron 11 and is expected to cause abnormal gene splicing. This may lead to loss of protein function due to protein truncation or absence of protein from this allele due to mRNA decay. However, the majority of disease-causing mutations in the RYR2 gene are missense changes, and there are no reported frameshift mutations associated with the RYR2 gene, to our knowledge. In summary, with the clinical and molecular information available at this time, we cannot definitively determine whether the c.848+1 G>A variant in the RYR2 gene is a disease-causing mutation or rare benign variant. The variant is found in POSTMORTEM panel(s).
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000182860 SCV000540258 uncertain significance not specified 2016-08-12 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: LOF not a known disease mechanism for this gene.

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