Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000356272 | SCV000353675 | uncertain significance | Junctional epidermolysis bullosa | 2017-04-27 | criteria provided, single submitter | clinical testing | The LAMB3 c.225_226delCA (p.His75GlnfsTer25) variant results in a frameshift and is predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, the Exome Aggregation Consortium or the Genome Aggregation Database. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of frameshift variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for junctional epidermolysis bullosa. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |
| Labcorp Genetics |
RCV001209779 | SCV001381229 | pathogenic | not provided | 2021-04-02 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with autosomal recessive junctional epidermolysis bullosa (PMID: 29334134). ClinVar contains an entry for this variant (Variation ID: 295145). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.His75Glnfs*25) 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). |
| Fulgent Genetics, |
RCV005016687 | SCV005645150 | pathogenic | Amelogenesis imperfecta type 1A; Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type | 2024-02-07 | criteria provided, single submitter | clinical testing | |
| Counsyl | RCV000675161 | SCV000800778 | likely pathogenic | Junctional epidermolysis bullosa gravis of Herlitz | 2017-08-02 | no assertion criteria provided | clinical testing |