ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.4039G>C (p.Gly1347Arg) (rs121912833)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498934 SCV000589631 pathogenic not provided 2016-02-29 criteria provided, single submitter clinical testing The Gly1347Arg pathogenic variant in the COL7A1 gene has been reported previously [Posteraro etal., 2005, Kopecková et al. 2015, Almaani et al 2011]. The Gly1347Arg variant was not observed inapproximately 6500 individuals of European and African American ancestry in the NHLBI ExomeSequencing Project, indicating it is not a common benign variant in these populations. TheGly1347Arg variant is a non-conservative amino acid substitution, which is likely to impact secondaryprotein structure as these residues differ in polarity, charge, size and/or other properties. Thissubstitution occurs at a position that is conserved across species. In silico analysis predicts this variantis probably damaging to the protein structure/function. No missense variants in nearby residues havebeen reported in the Human Gene Mutation Database in association with DEB, however, numerousother Glycine substitution variants in the triple helical domain have been reported (Stenson et al.,2014). We interpret Gly1347Arg as a pathogenic variant.
OMIM RCV000018982 SCV000039269 pathogenic Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant 1998-11-01 no assertion criteria provided literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000498934 SCV001741585 pathogenic not provided no assertion criteria provided clinical testing

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