ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.15016G>A (p.Gly5006Ser) (rs1568614042)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV000785960 SCV000924542 likely pathogenic Myopathy, Central Core 2018-06-15 criteria provided, single submitter research The heterozygous p.Gly5006Ser variant was identified by our study in one individual with central core disease. Trio exome analysis showed this variant to be de novo. This variant was absent from large population studies. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to definitively determine pathogenicity. In summary, although additional studies are required to fully establish its pathogenicity, this variant is likely pathogenic.
PreventionGenetics RCV000721411 SCV000852473 uncertain significance not provided 2016-08-27 criteria provided, single submitter clinical testing

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