Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001383190 | SCV001582263 | pathogenic | not provided | 2023-10-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln189*) 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 (no rsID available, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with autosomal recessive dystrophic epidermolysis bullosa (PMID: 10504458). ClinVar contains an entry for this variant (Variation ID: 1070885). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV002499796 | SCV002806062 | likely 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 | 2021-10-12 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001826162 | SCV002079313 | pathogenic | Epidermolysis bullosa dystrophica | 2021-04-20 | no assertion criteria provided | clinical testing |