Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001051947 | SCV001216132 | pathogenic | not provided | 2022-04-01 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 848235). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with dystrophic epidermolysis bullosa (PMID: 19681861). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln2249*) 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). |
Natera, |
RCV001836091 | SCV002079212 | pathogenic | Epidermolysis bullosa dystrophica | 2021-05-24 | no assertion criteria provided | clinical testing |