ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.2805G>A (p.Met935Ile) (rs727505044)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156471 SCV000206190 uncertain significance not specified 2014-04-09 criteria provided, single submitter clinical testing The Met935Ile variant in RYR2 has not been previously reported in individuals wi th cardiomyopathy or in large population studies. Computational prediction tools and conservation analysis do not provide strong support for or against an impac t to the protein. Additional information is needed to fully assess the clinical significance of the Met935Ile variant.
Integrated Genetics/Laboratory Corporation of America RCV000586421 SCV000697618 uncertain significance not provided 2016-01-26 criteria provided, single submitter clinical testing Variant summary: RYR2 c.2805G>A affects a conserved nucleotide, resulting in amino acid change from Met to Ile. 2/4 in-silico tools predict this variant to be benign (SNPs&GO not captured due to low reliability index). This variant is not found in 30480 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications, nor evaluated for functional impact by in vivo/vitro studies.At least one clinical diagnostic lab classifies the variant as a VUS. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available.

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