ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.2933C>T (p.Pro978Leu)

gnomAD frequency: 0.00019  dbSNP: rs200124278
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000721480 SCV000617191 uncertain significance not provided 2017-08-08 criteria provided, single submitter clinical testing The P978L variant in the RYR1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P978L variant is observed in 13/5020 alleles (0.259%) alleles from individuals of Finnish background in the ExAC dataset (Lek et al., 2016). The P978L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret P978L as a variant of uncertain significance.
PreventionGenetics, part of Exact Sciences RCV000721480 SCV000852552 uncertain significance not provided 2017-11-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078681 SCV001006111 likely benign RYR1-related disorder 2025-01-30 criteria provided, single submitter clinical testing

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