ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.4963C>T (p.Arg1655Cys)

gnomAD frequency: 0.00004  dbSNP: rs371777056
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288365 SCV001475427 uncertain significance not provided 2019-11-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486085 SCV002790630 uncertain significance Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 2021-07-13 criteria provided, single submitter clinical testing
GeneDx RCV001288365 SCV003930251 uncertain significance not provided 2023-05-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004035560 SCV004945837 uncertain significance Inborn genetic diseases 2024-02-27 criteria provided, single submitter clinical testing The c.4963C>T (p.R1655C) alteration is located in exon 34 (coding exon 34) of the RYR1 gene. This alteration results from a C to T substitution at nucleotide position 4963, causing the arginine (R) at amino acid position 1655 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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