ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.6100G>A (rs121912844)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413086 SCV000490497 pathogenic not provided 2018-07-02 criteria provided, single submitter clinical testing The G2034R pathogenic variant in the COL7A1 gene has been reported previously in numerous individuals with dystrophic epidermolysis bullosa (DEB) and is one of the most common autosomal dominant pathogenic variants in individuals with DEB (Varki et al., 2007). The G2034R variant is observed in 1/33,290 (0.003%) alleles from individuals of Latino background in large population cohorts (Lek et al., 2016). The G2034R 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. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect, as it occurs at a Glycine position of the canonical Gly-X-Y repeat in the collagenous domain of the COLVII protein. Missense variants in nearby residues (G2031S, G2037R, G2037E) have been reported in the Human Gene Mutation Database in association with DEB (Stenson et al., 2014), supporting the functional importance of this region of the protein. We interpret G2034R as a pathogenic variant.
Biomedical Innovation Departament, CIEMAT RCV001352761 SCV001547343 pathogenic Dystrophic epidermolysis bullosa 2019-12-02 criteria provided, single submitter research
OMIM RCV000019001 SCV000039288 pathogenic Generalized dominant dystrophic epidermolysis bullosa 2002-03-01 no assertion criteria provided literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000413086 SCV001741206 pathogenic not provided no assertion criteria provided clinical testing

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