Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biomedical Innovation Departament, |
RCV001352704 | SCV001547330 | pathogenic | Epidermolysis bullosa dystrophica | 2018-11-26 | criteria provided, single submitter | research | |
Invitae | RCV003727987 | SCV004535325 | pathogenic | not provided | 2023-03-17 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1047940). This premature translational stop signal has been observed in individual(s) with autosomal recessive epidermolysis bullosa dystrophica (PMID: 31001817). This sequence change creates a premature translational stop signal (p.Lys1859Argfs*12) 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). |