ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.4847C>T (p.Thr1616Met)

gnomAD frequency: 0.00016  dbSNP: rs776194441
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000541033 SCV000659946 likely benign RYR1-related disorder 2024-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476208 SCV000896738 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 2021-09-14 criteria provided, single submitter clinical testing
GeneDx RCV001546453 SCV001765973 uncertain significance not provided 2023-07-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV001546453 SCV003812569 uncertain significance not provided 2019-06-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024433 SCV004945835 uncertain significance Inborn genetic diseases 2024-03-08 criteria provided, single submitter clinical testing The c.4847C>T (p.T1616M) alteration is located in exon 33 (coding exon 33) of the RYR1 gene. This alteration results from a C to T substitution at nucleotide position 4847, causing the threonine (T) at amino acid position 1616 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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