Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001386585 | SCV001586849 | pathogenic | not provided | 2021-12-18 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1073553). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with autosomal recessive epidermolysis bullosa dystrophica (PMID: 32484238). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln908*) 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). |
Mendelics | RCV002246371 | SCV002519420 | pathogenic | Transient bullous dermolysis of the newborn | 2022-05-04 | criteria provided, single submitter | clinical testing |