ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.380-8_395del

dbSNP: rs1555420302
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672580 SCV000797695 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2018-02-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000672580 SCV002288517 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-11-11 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 3 (c.380-8_395del) of the CAPN3 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and 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 variant has not been reported in the literature in individuals affected with CAPN3-related conditions. ClinVar contains an entry for this variant (Variation ID: 556559). This variant disrupts a region of the CAPN3 protein in which other variant(s) (p.Trp130Ser) have been determined to be pathogenic (PMID: 33337384). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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