ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.3356G>A (p.Gly1119Asp) (rs587779639)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Collagen Diagnostic Laboratory,University of Washington RCV000087609 SCV000120499 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing
GeneDx RCV000481883 SCV000568645 likely pathogenic not provided 2017-01-18 criteria provided, single submitter clinical testing The G1119D variant in the COL3A1 gene has previously been reported in an individual sent for COL3A1 testing, however clinical features were not provided (Pepin et al., 2014). This variant was not observed in approximately 6,500 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 G1119D variant is a non-conservative amino acid substitution, 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 is located within the triple-helical region (Uniprot). Furthermore, in silico analysis predicts this variant is probably damaging to the protein structure/function. Based on the currently available evidence, G1119D is a strong candidate for a pathogenic variant.

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