ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.2650G>A (p.Gly884Ser)

dbSNP: rs1567755602
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755940 SCV000883621 likely pathogenic not provided 2017-08-08 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000755940 SCV003821294 pathogenic not provided 2022-11-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004547947 SCV004107491 pathogenic COL1A1-related disorder 2023-05-22 criteria provided, single submitter clinical testing The COL1A1 c.2650G>A variant is predicted to result in the amino acid substitution p.Gly884Ser. This variant was reported in an individual with osteogenesis imperfecta type II (Table 2, Bodian et al. 2009. PubMed ID: 18996919). This variant is located in the conserved Gly-Xaa-Yaa triple helical domain where substitutions of a glycine are usually pathogenic (Marini et al. 2007. PubMed ID: 17078022). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as pathogenic.

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