Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001072052 | SCV001237395 | pathogenic | not provided | 2023-12-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg1340*) 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 (rs761927109, gnomAD 0.04%). This premature translational stop signal has been observed in individuals with autosomal recessive dystrophic epidermolysis bullosa (PMID: 16189623, 31001817). ClinVar contains an entry for this variant (Variation ID: 864784). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV001072052 | SCV001795255 | pathogenic | not provided | 2022-04-22 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 10504458, 20555349, 20598510, 31001817, 8037207, 16189623) |
Mendelics | RCV002249671 | SCV002519418 | pathogenic | Transient bullous dermolysis of the newborn | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002482148 | SCV002787411 | pathogenic | Recessive dystrophic epidermolysis bullosa; Pretibial dystrophic epidermolysis bullosa; Dominant dystrophic epidermolysis bullosa with absence of skin; Transient bullous dermolysis of the newborn; Epidermolysis bullosa pruriginosa; Nonsyndromic congenital nail disorder 8; Generalized dominant dystrophic epidermolysis bullosa | 2021-10-01 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001833679 | SCV002079256 | pathogenic | Epidermolysis bullosa dystrophica | 2021-04-28 | no assertion criteria provided | clinical testing |