ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.412dup (p.Leu138fs)

dbSNP: rs2141160513
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001390977 SCV001592890 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-09-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu138Profs*15) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of autosomal recessive limb-girdle muscular dystrophy (PMID: 29797799). This variant is also known as c.411dup. ClinVar contains an entry for this variant (Variation ID: 1076915). For these reasons, this variant has been classified as Pathogenic.

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