ClinVar Miner

Submissions for variant NC_000002.12:g.(?_188974470)_(189580480_?)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 RCV000634741 SCV000756084 pathogenic Ehlers-Danlos syndrome, type 4 2017-10-04 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the COL3A1 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. A deletion encompassing COL3A1, COL5A2 and other 20 known genes has been reported to segregate with aortic dissection in a multigenerational family (PMID: 20648054). Loss-of-function variants in COL3A1 are known to be pathogenic (PMID: 24922459). For these reasons, this variant has been classified as Pathogenic.

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