Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001218750 | SCV001390648 | pathogenic | not provided | 2024-01-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg2332*) in the COL7A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL7A1 are known to be pathogenic (PMID: 16971478). This variant is present in population databases (rs765027608, gnomAD 0.003%). This premature translational stop signal has been observed in individuals with autosomal recessive dystrophic epidermolysis bullosa (PMID: 28830826, 33274474). This variant has been reported in individual(s) with autosomal dominant dystrophic epidermolysis bullosa (PMID: 34046686); however, the role of the variant in this condition is currently unclear. ClinVar contains an entry for this variant (Variation ID: 947637). For these reasons, this variant has been classified as Pathogenic. |
Diagnostic Laboratory, |
RCV001218750 | SCV001740912 | likely pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001218750 | SCV001960087 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Natera, |
RCV001828739 | SCV002079208 | pathogenic | Epidermolysis bullosa dystrophica | 2020-11-10 | no assertion criteria provided | clinical testing |