ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.1988G>T (p.Gly663Val) (rs587779454)

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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 RCV000087672 SCV000120564 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing
GeneDx RCV000181091 SCV000233367 likely pathogenic not provided 2013-09-13 criteria provided, single submitter clinical testing p.Gly663Val (GGT>GTT): c.1988 G>T in exon 29 of the COL3A1 gene (NM_000090.3) While the Gly663Val mutation in the COL3A1 gene has not been reported to our knowledge, a mutation affecting this same codon, Gly663Asp, has been reported in association with vascular Ehlers Danlos syndrome (EDS) (Nakamura M et al., 2009). Additionally, mutations in nearby residues (Gly660Asp, Gly666Asp) have been reported in association with EDS, further supporting the functional importance of this residue and this region of the protein. Although Gly663Val results in a conservative amino acid substitution of one non-polar residue for another, the Gly663 residue is conserved across species. In silico analysis predicts Gly663Val is probably damaging to the protein structure/function. Furthermore, Gly663Val 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. In summary, Gly663Val in the COL3A1 gene is interpreted as a likely disease-causing mutation. The variant is found in TAAD panel(s).

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