ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.3971G>C (p.Gly1324Ala) (rs773678614)

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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 RCV000780693 SCV000918173 uncertain significance not specified 2017-10-23 criteria provided, single submitter clinical testing Variant summary: The RYR2 variant, c.3971G>C (p.Gly1324Ala), causes a missense change involving a non-conserved nucleotide and 3/4 in silico tools (SNPsandGO is not captured here due to low reliability index) predict a benign outcome. However, these predictions have not been functionally assessed. This variant was found in 7/276794 control chromosomes at a frequency of 0.0000253, which does not exceed the estimated maximal expected allele frequency of a pathogenic RYR2 variant (0.000055). The variant has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories. Taken together, the variant has been classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.

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