ClinVar Miner

Submissions for variant NC_000021.8:g.(?_47407403)_(47407578_?)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 RCV001963074 SCV002243819 pathogenic Bethlem myopathy 1A 2020-11-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the triple helix domain of COL6A1. 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 COL6A1, variants at these glycine residues are significantly enriched in individuals with disease (PMID: 15689448, 24038877) compared to the general population (ExAC). This variant has not been reported in the literature in individuals with COL6A1-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 7-8 of the COL6A1 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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