Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biomedical Innovation Departament, |
RCV001352745 | SCV001547278 | pathogenic | Epidermolysis bullosa dystrophica | 2019-11-18 | criteria provided, single submitter | research | |
Invitae | RCV001871900 | SCV002168070 | pathogenic | not provided | 2023-07-16 | criteria provided, single submitter | clinical testing | This variant is also known as 325insCG. ClinVar contains an entry for this variant (Variation ID: 1047970). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individuals with dystrophic epidermolysis bullosa (PMID: 9326325, 22209565, 31001817, 35979658). This sequence change creates a premature translational stop signal (p.Glu109Alafs*39) 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). |
Center for Research in Genodermatoses and Epidermolysis Bullosa, |
RCV002276701 | SCV002499317 | pathogenic | Recessive dystrophic epidermolysis bullosa | 2022-03-14 | criteria provided, single submitter | clinical testing | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002245974 | SCV002512518 | pathogenic | Recessive dystrophic epidermolysis bullosa; Generalized dominant dystrophic epidermolysis bullosa | 2021-10-26 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PVS1 very strong, PM2 moderate, PP4 supporting |
Mendelics | RCV002246332 | SCV002519422 | pathogenic | Transient bullous dermolysis of the newborn | 2022-05-04 | criteria provided, single submitter | clinical testing |