ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.11588G>A (p.Gly3863Asp) (rs794728775)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182798 SCV000235184 likely pathogenic not provided 2013-02-06 criteria provided, single submitter clinical testing p.Gly3863Asp (GGC>GAC): c.11588 G>A in exon 86 of the RYR2 gene (NM_001035.2). The Gly3863Asp variant in the RYR2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Gly3863Asp results in a non-conservative amino acid substitution of a neutral Glycine with a negatively-charged Aspartic acid at a position that is highly conserved across species. Consequently, in silico analysis predicts Gly3863Asp is damaging to the protein structure/function. Gly3863Asp is located in the channel region, a mutation hotspot region of the RYR2 gene (Medeiros-Domingo A et al., 2009). The Gly3863Asp variant was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. However, control data from individuals of other ethnic backgrounds was not available to assess for a population-specific benign polymorphism. In summary, Gly3863Asp is a good candidate for a disease-causing mutation. The variant is found in POSTMORTEM panel(s).

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