ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.6217G>T (p.Gly2073Cys)

dbSNP: rs2107672112
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001548070 SCV001767922 pathogenic not provided 2021-06-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Located in the highly conserved Gly-X-Y repeat of the collagenous domain; Glycine substitution variants in this region of the COLVII protein destabilize the collagen triple helix resulting in skin fragility due to poor anchoring of the basement membrane to the underlying dermis (Pfendner and Lucky, 2018); Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect

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