ClinVar Miner

Submissions for variant NC_000002.11:g.(?_189856193)_(189856974_?)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 RCV001388020 SCV001588806 pathogenic Ehlers-Danlos syndrome, type 4 2020-05-18 criteria provided, single submitter clinical testing 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 COL3A1, variants that affect these glycine residues are significantly enriched in individuals with disease (PMID: 24922459, 25758994) compared to the general population (ExAC). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with COL3A1-related conditions. This variant is an in-frame deletion of the genomic region encompassing exons 13-14 of the COL3A1 gene. It preserves the integrity of the reading frame.

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