ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.3209A>C (p.His1070Pro)

gnomAD frequency: 0.00004  dbSNP: rs767399660
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002231240 SCV000627333 likely benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2023-09-06 criteria provided, single submitter clinical testing
GeneDx RCV001560740 SCV001783209 uncertain significance not provided 2019-07-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID# 456828; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; 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)
CeGaT Center for Human Genetics Tuebingen RCV001560740 SCV004010686 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing COL1A2: BP4

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