ClinVar Miner

Submissions for variant NC_000017.10:g.(?_48272388)_(48278874_?)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 RCV001872273 SCV002117848 pathogenic Osteogenesis imperfecta type I 2021-09-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individual(s) with osteogenesis imperfecta (Invitae). This variant is a gross deletion of the genomic region encompassing exon(s) 1-20 of the COL1A1 gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL1A1 are known to be pathogenic (PMID: 7942841, 9295084, 9443882).

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