ClinVar Miner

Submissions for variant NC_000015.9:g.(?_42652004)_(42703563_?)del

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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 RCV001951433 SCV002239677 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-09-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CAPN3-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 1-23 of the CAPN3 gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. 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).

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