Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000414030 | SCV000490595 | pathogenic | not provided | 2015-04-29 | criteria provided, single submitter | clinical testing | The Y339X variant in the LAMB3 gene has not been reported previously as a pathogenic variant nor as a benign polymorphism, to our knowledge, however numerous other premature termination codon forming variants have been identified. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Y339X was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret Y339X as a pathogenic variant. |
| Fulgent Genetics, |
RCV000762878 | SCV000893258 | pathogenic | Amelogenesis imperfecta type 1A; Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type | 2018-10-31 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000414030 | SCV002147193 | pathogenic | not provided | 2023-09-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr339*) in the LAMB3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LAMB3 are known to be pathogenic (PMID: 11023379, 16473856). This variant is present in population databases (rs774174881, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with LAMB3-related conditions. ClinVar contains an entry for this variant (Variation ID: 372402). For these reasons, this variant has been classified as Pathogenic. |