ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter)

dbSNP: rs772494345
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000721273 SCV000233203 pathogenic not provided 2016-07-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000721273 SCV000852297 likely pathogenic not provided 2018-07-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492793 SCV002788384 likely pathogenic Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 2021-11-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003591696 SCV004285629 pathogenic RYR1-related disorder 2023-06-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 199203). This premature translational stop signal has been observed in individual(s) with autosomal recessive RYR1-related conditions (PMID: 30155738). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Glu4167*) in the RYR1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RYR1 are known to be pathogenic (PMID: 23919265, 25960145, 28818389, 30611313).

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