ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.5173G>A (p.Gly1725Arg) (rs772195825)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521857 SCV000619040 pathogenic not provided 2021-05-07 criteria provided, single submitter clinical testing Occurs at a Glycine position of the canonical Gly-X-Y repeat in the collagenous domain of the COLVII protein. Glycine substitutions in this region of the protein destabilize the COLVII triple helix yielding fragile and unstable anchoring fibrils that are unable to adequately anchor the basement membrane of the epidermis to the dermis resulting in skin fragility; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000521857 SCV001497159 uncertain significance not provided 2019-07-02 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 1725 of the COL7A1 protein (p.Gly1725Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs772195825, ExAC 0.01%). This variant has not been reported in the literature in individuals with COL7A1-related conditions. ClinVar contains an entry for this variant (Variation ID: @@VARXXXXXXX@@). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: @@POLYPHEN2_OUTPUT@@; Align-GVGD: Class C0). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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