ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.5381G>A (p.Gly1794Glu)

dbSNP: rs2044547049
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biomedical Innovation Departament, CIEMAT RCV001352855 SCV001547321 pathogenic Epidermolysis bullosa dystrophica 2009-11-17 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002298936 SCV002593586 uncertain significance not provided 2022-09-15 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 1794 of the COL7A1 protein (p.Gly1794Glu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL7A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1048042). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt COL7A1 protein function. 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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