ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1298_1299del (p.Val433fs)

dbSNP: rs1293496023
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673908 SCV000799163 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2018-04-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000673908 SCV000957532 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-11-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val433Glufs*37) 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 (no rsID available, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 15733273). ClinVar contains an entry for this variant (Variation ID: 557732). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001784288 SCV002018078 pathogenic not provided 2023-06-21 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV000673908 SCV004100577 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A criteria provided, single submitter clinical testing
Baylor Genetics RCV003472162 SCV004211565 pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2023-11-13 criteria provided, single submitter clinical testing

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