ClinVar Miner

Submissions for variant NC_000002.12:g.(?_237358501)_(237361194_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707815 SCV000836925 pathogenic Bethlem myopathy 1 2021-08-13 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 16-21 of the COL6A3 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with clinical features of COL6A3-related conditions (Invitae). This variant disrupts the triple helix domain of COL6A3. Glycine residues within the Gly-Xaa-Yaa repeats of the triple helix domain are required for the structure and stability of fibrillar collagens (PMID: 7695699, 8218237, 19344236). In COL6A3, missense variants at these glycine residues are significantly enriched in individuals with autosomal dominant disease (PMID: 15689448, 24038877) compared to the general population (ExAC). For these reasons, this variant has been classified as Pathogenic.

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