ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.958_960del

dbSNP: rs1064794313
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481041 SCV000568765 uncertain significance not provided 2019-07-15 criteria provided, single submitter clinical testing Previously identified in a patient reported to have a RYR1-related myopathy; however, detailed clinical information and segregation analysis was not provided (Amburgey et al., 2013); Not observed in large population cohorts (Lek et al., 2016); In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 23919265)
Labcorp Genetics (formerly Invitae), Labcorp RCV001222879 SCV001395001 pathogenic RYR1-related disorder 2019-11-04 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Glu320 amino acid residue in RYR1. Other variant(s) that disrupt this residue have been determined to be pathogenic (Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has been observed in individual(s) with RYR1-related myopathy (PMID: 23919265, Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 420138). This variant, c.958_960del, results in the deletion of 1 amino acid(s) of the RYR1 protein (p.Glu320del), but otherwise preserves the integrity of the reading frame.

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