ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.2090G>A (p.Arg697Gln)

gnomAD frequency: 0.00004  dbSNP: rs202221716
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001754861 SCV001996490 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Occurs in the triple helical domain at the Y 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 Y position is not a common mechanism of disease (Stenson et al., 2014)
Labcorp Genetics (formerly Invitae), Labcorp RCV001868436 SCV002265565 likely benign Osteogenesis imperfecta type I 2022-08-31 criteria provided, single submitter clinical testing

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