ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.2084del (p.Gly695fs)

dbSNP: rs72651641
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001058870 SCV001223467 pathogenic Osteogenesis imperfecta type I 2021-08-26 criteria provided, single submitter clinical testing
3billion RCV002250721 SCV002521280 pathogenic Osteogenesis imperfecta type III 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with COL1A1 related disorder (ClinVar ID: VCV000853946 / PMID: 23529829). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
PreventionGenetics, part of Exact Sciences RCV003393828 SCV004119688 pathogenic COL1A1-related condition 2022-11-11 criteria provided, single submitter clinical testing The COL1A1 c.2084delG variant is predicted to result in a frameshift and premature protein termination (p.Gly695Valfs*71). This variant was reported to be pathogenic for osteogenesis imperfecta (Table S1, Ben Amor et al 2013. PubMed ID: 23529829). In ClinVar, this variant is also interpreted as pathogenic (https://preview.ncbi.nlm.nih.gov/clinvar/variation/853946/). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in COL1A1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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