ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.2065G>T (p.Glu689Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004720693 SCV005329589 likely pathogenic Congenital multicore myopathy with external ophthalmoplegia 2023-05-20 criteria provided, single submitter clinical testing The stop gained c.2065G>T(p.Glu689Ter) variant in RYR1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The observed variant is absent in gnomAD exomes database. This variant has not been submitted to the ClinVar database. The nucleotide change c.2065G>T in RYR1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. Computational evidence (MutationTaster - disease causing) predict a damaging effect on protein structure and function for this variant. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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