Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001240344 | SCV001413278 | pathogenic | not provided | 2023-12-20 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val769Phefs*3) 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). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This premature translational stop signal has been observed in individual(s) with autosomal recessive dystrophic epidermolysis bullosa (PMID: 19681861, 26148662). This variant is also known as c.2035_14del10Ins2. For these reasons, this variant has been classified as Pathogenic. |
| Biomedical Innovation Departament, |
RCV001352797 | SCV001547292 | pathogenic | Epidermolysis bullosa dystrophica | 2018-03-26 | criteria provided, single submitter | research | |
| Gene |
RCV001240344 | SCV001783335 | pathogenic | not provided | 2021-11-22 | criteria provided, single submitter | clinical testing | Frame-shift 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; Not observed in large population cohorts (gnomAD); In silico analysis, which includes splice predictors, also supports a deleterious effect; This variant is associated with the following publications: (PMID: 19681861, 26148662, 33274474) |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004768965 | SCV005380468 | pathogenic | Recessive dystrophic epidermolysis bullosa | 2024-08-21 | criteria provided, single submitter | clinical testing | Variant summary: COL7A1 c.2305_2314delinsTT (p.Val769PhefsX3) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 31318 control chromosomes. c.2305_2314delinsTT has been reported in the literature in individuals affected with Dystrophic Epidermolysis Bullosa, Recessive (example: Kern_2009). The following publication have been ascertained in the context of this evaluation (PMID: 19681861). ClinVar contains an entry for this variant (Variation ID: 965813). Based on the evidence outlined above, the variant was classified as pathogenic. |