ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.8078C>T (p.Pro2693Leu)

gnomAD frequency: 0.00001  dbSNP: rs568662364
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001093151 SCV001249995 uncertain significance not provided 2020-03-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482166 SCV002777132 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 2021-07-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004031995 SCV004943169 uncertain significance Inborn genetic diseases 2024-01-04 criteria provided, single submitter clinical testing The c.8078C>T (p.P2693L) alteration is located in exon 51 (coding exon 51) of the RYR1 gene. This alteration results from a C to T substitution at nucleotide position 8078, causing the proline (P) at amino acid position 2693 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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