ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1027G>T (p.Glu343Ter)

gnomAD frequency: 0.00001  dbSNP: rs766334893
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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) RCV000627356 SCV000701518 pathogenic not provided 2018-04-12 criteria provided, single submitter clinical testing
GeneDx RCV000627356 SCV000748349 pathogenic not provided 2018-04-24 criteria provided, single submitter clinical testing The E343X variant in the CAPN3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The E343X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret E343X as a pathogenic variant.
Invitae RCV000591954 SCV000830883 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-01-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu343*) 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). This variant is present in population databases (rs766334893, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with CAPN3-related conditions. ClinVar contains an entry for this variant (Variation ID: 497182). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003459462 SCV004213754 likely pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2023-07-10 criteria provided, single submitter clinical testing

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