ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.3106C>T (p.Arg1036Cys) (rs72653177)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000435717 SCV000521022 likely pathogenic not provided 2017-02-24 criteria provided, single submitter clinical testing The R1036C variant in the COL1A1 gene has been reported previously in three individuals from a family who presented with symptoms from both the osteogenesis imperfecta and Ehlers-Danlos syndrome spectrum (Lund et al., 2008). This variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R1036C variant is a non-conservative amino acid substitution within a triple-helical region of the COL1A1 protein, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. The R1036C variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.

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