ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.846_854del (p.Glu282_Gly284del)

dbSNP: rs1556425474
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000552183 SCV000657079 likely pathogenic Bethlem myopathy 1A 2022-07-19 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely 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 autosomal dominant disease (PMID: 15689448, 24038877) compared to the general population (ExAC). ClinVar contains an entry for this variant (Variation ID: 476440). This variant has not been reported in the literature in individuals affected with COL6A1-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.846_854del, results in the deletion of 3 amino acid(s) of the COL6A1 protein (p.Glu282_Gly284del), but otherwise preserves the integrity of the reading frame.
Eurofins Ntd Llc (ga) RCV000596227 SCV000702889 uncertain significance not provided 2016-12-21 criteria provided, single submitter clinical testing

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