ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.2605G>T (p.Gly869Cys)

dbSNP: rs72653143
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002464069 SCV002759210 pathogenic not provided 2022-11-25 criteria provided, single submitter clinical testing Occurs in the triple helical domain and replaces a glycine in a canonical Gly-X-Y repeat; missense substitution of a canonical glycine residue is expected to disrupt normal protein folding and function, and this is an established mechanism of disease (Jovanovic 2021); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as p.(G691C); This variant is associated with the following publications: (PMID: 35583673, 34617103, 1953667, 34007986)
OMIM RCV000018833 SCV000039116 pathogenic Osteogenesis imperfecta, perinatal lethal 1988-08-25 no assertion criteria provided literature only

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