ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.2495G>A (p.Gly832Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003412445 SCV004112006 likely pathogenic COL1A2-related disorder 2023-02-15 criteria provided, single submitter clinical testing The COL1A2 c.2495G>A variant is predicted to result in the amino acid substitution p.Gly832Glu. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. The p.Gly832 amino acid 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). In addition, a different variant affecting the same amino acid (p.Gly832Val) was reported in one individual with osteogenesis imperfecta (Table S1, Li. 2019. PubMed ID: 30715774). This variant is interpreted as likely pathogenic.

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