ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.2957C>T (p.Pro986Leu)

gnomAD frequency: 0.00001  dbSNP: rs768171831
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000199225 SCV000255349 likely pathogenic Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III 2013-04-16 criteria provided, single submitter clinical testing
Invitae RCV002519576 SCV000752620 likely benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2023-07-24 criteria provided, single submitter clinical testing
GeneDx RCV001589081 SCV001815222 uncertain significance not provided 2021-01-12 criteria provided, single submitter clinical testing Has been reported as a maternally inherited likely pathogenic variant in a patient with clinical features of osteogenesis imperfecta (Lee et al., 2014); Occurs in the triple helical domain at the X position in the canonical Gly-X-Y repeat. Although this variant may have an effect on normal protein folding and function, missense substitution at the X position is not a common mechanism of disease (Stenson et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar with conflicting classifications, but additional evidence is not available (ClinVar Variant ID# 216909; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 25326637)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277551 SCV002564789 uncertain significance Osteogenesis imperfecta 2021-06-25 criteria provided, single submitter clinical testing

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