ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2235C>A (p.Tyr745Ter)

dbSNP: rs147774793
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593493 SCV000704573 pathogenic not provided 2016-12-27 criteria provided, single submitter clinical testing
Invitae RCV001247085 SCV001420487 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-03-09 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: 499202). This premature translational stop signal has been observed in individuals with autosomal recessive limb-girdle muscular dystrophy (PMID: 15689361). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr745*) in the CAPN3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CAPN3 are known to be pathogenic (PMID: 10330340, 15689361).
Baylor Genetics RCV003459470 SCV004213780 pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2023-04-24 criteria provided, single submitter clinical testing

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