Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biomedical Innovation Departament, |
RCV001352800 | SCV001547295 | pathogenic | Epidermolysis bullosa dystrophica | 2019-03-14 | criteria provided, single submitter | research | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002245975 | SCV002512507 | pathogenic | Recessive dystrophic epidermolysis bullosa; Generalized dominant dystrophic epidermolysis bullosa | 2022-01-28 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PVS1 very strong, PS4 moderate, PM2 moderate, PM3 supporting |
Invitae | RCV002547569 | SCV003459784 | pathogenic | not provided | 2023-12-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln929Thrfs*6) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal recessive dystrophic epidermolysis bullosa (PMID: 29473190, 31001817). For these reasons, this variant has been classified as Pathogenic. |