ClinVar Miner

Submissions for variant NC_000015.9:g.(?_42694952)_(42698151_?)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 RCV003119243 SCV003790208 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-11-08 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 13-15 of the CAPN3 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with CAPN3-related conditions. This variant disrupts a region of the CAPN3 protein in which other variant(s) (p.Arg541Trp) have been determined to be pathogenic (PMID: 16100770, 18854869, 19556129). 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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