ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.258dup (p.Leu87fs)

gnomAD frequency: 0.00005  dbSNP: rs753360208
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000498857 SCV000336607 pathogenic not provided 2015-11-03 criteria provided, single submitter clinical testing
GeneDx RCV000498857 SCV000589548 likely pathogenic not provided 2024-11-07 criteria provided, single submitter clinical testing Reported previously in the homozygous state as well as in the presence of a second CAPN3 variant in multiple unrelated individuals with limb girdle muscular dystrophy type 2A (PMID: 16650086, 18055493, 26677118, 31931849); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 18055493, 26677118, 16650086, 31931849)
Labcorp Genetics (formerly Invitae), Labcorp RCV000809165 SCV000949307 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2025-01-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu87Serfs*4) 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 (rs753360208, gnomAD 0.02%). This premature translational stop signal has been observed in individuals with autosomal recessive muscular dystrophy (PMID: 16650086, 26677118). ClinVar contains an entry for this variant (Variation ID: 284122). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000498857 SCV003813129 pathogenic not provided 2023-01-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003475904 SCV004211530 pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2024-03-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005008242 SCV005635656 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A; Muscular dystrophy, limb-girdle, autosomal dominant 4 2024-01-18 criteria provided, single submitter clinical testing

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