ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.5279G>A (p.Arg1760Gln) (rs765106198)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000587484 SCV000697619 uncertain significance not provided 2016-10-03 criteria provided, single submitter clinical testing Variant summary: The c.5279G>A (p.Arg1760Gln) in RYR2 gene is a missense change that involves a conserved nucleotide and 3/5 in silico tools predict benign outcome. The variant is located outside of any known functional domain. The variant is present in the large control population dataset of ExAC at a low frequency 0.000008 (1/120724 chrs tested), which does not exceed the maximal expected frequency of a pathogenic allele (0.00005) in this gene. The variant has not been reported in affected individuals in the literature or by any reputable database/clinical laboratory. Taking together, the variant was classified as VUS until more data become available.

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