ClinVar Miner

Submissions for variant NC_000017.10:g.(?_48271508)_(48278605_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546229 SCV000627155 pathogenic Osteogenesis imperfecta type I 2017-03-23 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 2-23 and the first 37 nucleotides of exon 24 of the COL1A1 gene. The duplicated copy of this region is in tandem, and causes a frameshift at codon 551. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular duplication has not been reported in the literature, loss-of-function variants in COL1A1 are known to be pathogenic (PMID: 9443882, 9295084, 7942841). For these reasons, this variant has been classified as Pathogenic.

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