ClinVar Miner

Submissions for variant NC_000015.10:g.(?_42359796)_(42360124_?)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 RCV000794131 SCV000933521 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-11-15 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 1 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). A similar copy number variant has been observed in individual(s) with autosomal recessive muscular dystrophy (PMID: 25987458). For these reasons, this variant has been classified as Pathogenic.

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