ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.9851G>A (p.Trp3284Ter)

dbSNP: rs2145682223
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814355 SCV001755155 pathogenic Abnormality of the musculature 2021-07-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003591879 SCV004297340 pathogenic RYR1-related disorder 2023-08-16 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with clinical features of autosomal recessive RYR1-related conditions (PMID: 26932181). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp3284*) 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). ClinVar contains an entry for this variant (Variation ID: 1180626). For these reasons, this variant has been classified as Pathogenic.

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