ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.6842G>C (p.Gly2281Ala)

dbSNP: rs1064793915
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486736 SCV000567344 pathogenic not provided 2023-10-19 criteria provided, single submitter clinical testing 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 at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 20301481)

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