ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.3554G>A (p.Gly1185Asp) (rs121912917)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434900 SCV000521085 likely pathogenic not provided 2016-08-12 criteria provided, single submitter clinical testing The G1185D variant in the COL3A1 gene has been reported previously (as G1018D due to the use of alternative nomenclature) in association with Ehlers-Danlos syndrome, vascular type (Pepin et al., 2014; Kontusaari et al., 1992). 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 G1185D 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 in silico analysis predicts this variant is probably damaging to the protein structure/function. A missense variant in the same residue (G1185V, reported as G1018V due to the use of alternative nomenclature) has been reported in association with Ehlers-Danlos syndrome vascular type (Smith et al., 1997), supporting the functional importance of this region of the protein. The G1185D variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
OMIM RCV000018756 SCV000039039 pathogenic Ehlers-Danlos syndrome, type 4 1992-09-01 no assertion criteria provided literature only
Collagen Diagnostic Laboratory,University of Washington RCV000018756 SCV000120447 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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