Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000674109 | SCV000799385 | uncertain significance | Deficiency of galactokinase | 2018-04-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003727802 | SCV004535474 | pathogenic | not provided | 2023-02-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu1657*) in the ITGB4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ITGB4 are known to be pathogenic (PMID: 11328943, 16473856). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with epidermolysis bullosa (PMID: 23496044). ClinVar contains an entry for this variant (Variation ID: 557909). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. |