ClinVar Miner

Submissions for variant NC_000002.12:g.(?_188974480)_(189580648_?)del

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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 RCV001031462 SCV001194768 pathogenic Ehlers-Danlos syndrome, type 4 2019-11-18 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. Isolated whole-gene deletions of COL3A1 have not been reported in the literature. However, larger copy number events that include this gene have been reported (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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001386250 SCV001586396 pathogenic Ehlers-Danlos syndrome, classic type 2020-01-13 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the COL5A2 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. Isolated whole-gene deletions of COL5A2 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 20648054). Loss-of-function variants in COL5A2 are known to be pathogenic (PMID: 23587214). For these reasons, this variant has been classified as Pathogenic.

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