Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Research in Genodermatoses and Epidermolysis Bullosa, |
RCV002277074 | SCV002499373 | likely pathogenic | Recessive dystrophic epidermolysis bullosa | 2022-03-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003728046 | SCV004548413 | uncertain significance | not provided | 2023-08-14 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2910 of the COL7A1 protein (p.Gly2910Val). This variant is present in population databases (no rsID available, gnomAD 0.02%). This missense change has been observed in individual(s) with autosomal recessive dystrophic epidermolysis bullosa (PMID: 35979658). ClinVar contains an entry for this variant (Variation ID: 1676638). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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. |