ClinVar Miner

Submissions for variant NM_000494.4(COL17A1):c.2011G>A (p.Gly671Ser)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002289348 SCV002580117 uncertain significance Epithelial recurrent erosion dystrophy 2022-06-09 criteria provided, single submitter clinical testing
GeneDx RCV002508352 SCV002818003 uncertain significance not provided 2022-06-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Substitutions of the Glycine position within the canonical Gly-X-Y repeat in the collagenous carboxy-terminal domain of the protein destabilize the homomeric collagen 17 triple helix, leading to fragile hemidesmosomes and basement membrane zone (Pfendner and Lucky, 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Leeds Amelogenesis Imperfecta Research Group, University of Leeds RCV003314725 SCV004012865 likely pathogenic Amelogenesis imperfecta type 1A 2023-07-12 no assertion criteria provided research

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