ClinVar Miner

Submissions for variant NC_000002.11:g.(?_189839216)_(190044330_?)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 RCV003119290 SCV003790610 pathogenic Ehlers-Danlos syndrome, type 4 2022-10-07 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. Loss-of-function variants in COL3A1 are known to be pathogenic (PMID: 24922459). The boundaries of this event are unknown as they extend 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). For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV003109227 SCV003793177 pathogenic Ehlers-Danlos syndrome, classic type, 1 2022-10-07 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. Loss-of-function variants in COL5A2 are known to be pathogenic (PMID: 23587214). The boundaries of this event are unknown as they extend 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). For these reasons, this variant has been classified as Pathogenic.

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