ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.8107C>T (p.Arg2703Trp)

gnomAD frequency: 0.00001  dbSNP: rs759039839
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biomedical Innovation Departament, CIEMAT RCV001352714 SCV001547390 pathogenic Epidermolysis bullosa dystrophica 2019-01-30 criteria provided, single submitter research
Mendelics RCV002246331 SCV002518141 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Invitae RCV002547566 SCV003449975 uncertain significance not provided 2022-09-20 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 2703 of the COL7A1 protein (p.Arg2703Trp). This variant is present in population databases (rs759039839, gnomAD 0.003%). 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: 1047949). 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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