Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000411684 | SCV000486741 | pathogenic | Junctional epidermolysis bullosa gravis of Herlitz | 2016-08-02 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000778965 | SCV000915392 | likely pathogenic | Junctional epidermolysis bullosa | 2018-10-30 | criteria provided, single submitter | clinical testing | The LAMB3 c.1117C>T (p.Gln373Ter) variant is a stop-gained variant predicted to result in premature termination of the protein. It has been reported in two studies in which is found in a compound heterozygous state with the recurrent LAMB3 variant, p.Arg635Ter, in three affected individuals. All three individuals presented with a severe, neonatal-lethal form of junctional epidermolysis bullosa known as Herlitz disease or H-JEB. (Muhle et al. 2005; Tolar et al. 2013) Control data are unavailable for this variant, which is reported at a frequency of 0.000009 in the European (non-Finnish) population of the Genome Aggregation Database but this is based on one allele in a region of good sequence coverage, so the variant is presumed to be rare. Skin biopsy studies showed reduced laminin-5 expression in two probands (Muhle et al. 2005) and absence of laminin B3 chain at the dermal epidermal junction in one proband (Tolar et al. 2013). Based on the evidence, the variant is classified as likely pathogenic for junctional epidermolysis bullosa. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |
Invitae | RCV001383403 | SCV001582537 | pathogenic | not provided | 2023-04-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 371216). This premature translational stop signal has been observed in individual(s) with junctional epidermolysis bullosa (PMID: 11023379, 25950805, 28830826). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Gln373*) 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). |
Revvity Omics, |
RCV001383403 | SCV002023900 | pathogenic | not provided | 2022-02-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001383403 | SCV002757035 | pathogenic | not provided | 2022-11-17 | criteria provided, single submitter | clinical testing | Nonsense 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 at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 22931927, 11023379, 25950805, 15538630, 28830826) |
Pars Genome Lab | RCV003114525 | SCV003798447 | pathogenic | Junctional epidermolysis bullosa, non-Herlitz type | criteria provided, single submitter | clinical testing |