ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.2720G>A (p.Gly907Asp)

dbSNP: rs121912900
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002281710 SCV002571672 pathogenic not provided 2022-09-12 criteria provided, single submitter clinical testing Affects a glycine residue in a Gly-X-Y motif in the triple helical region of the COL1A2 gene, where the majority of pathogenic missense variants occur; Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 2914942)
OMIM RCV000018779 SCV000039062 pathogenic Osteogenesis imperfecta, perinatal lethal 1989-02-15 no assertion criteria provided literature only

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