Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000668237 | SCV000792809 | uncertain significance | Deficiency of galactokinase | 2017-07-17 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV001536079 | SCV001752780 | likely pathogenic | Junctional epidermolysis bullosa with pyloric atresia; Epidermolysis bullosa simplex 1C, localized; Junctional epidermolysis bullosa, non-Herlitz type | 2021-06-30 | criteria provided, single submitter | clinical testing | |
| Arcensus | RCV002466260 | SCV002564585 | likely pathogenic | Epidermolysis bullosa, junctional 5A, intermediate | 2013-02-01 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV003767961 | SCV004670467 | likely pathogenic | not provided | 2023-05-15 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 552889). This variant has not been reported in the literature in individuals affected with ITGB4-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change affects a donor splice site in intron 37 of the ITGB4 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ITGB4 are known to be pathogenic (PMID: 11328943, 16473856). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |