Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666564 | SCV000790874 | likely pathogenic | Junctional epidermolysis bullosa gravis of Herlitz | 2017-04-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001855463 | SCV002232758 | pathogenic | not provided | 2022-03-01 | 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: 551490). This premature translational stop signal has been observed in individual(s) with autosomal recessive Herlitz junctional epidermolysis bullosa (PMID: 11298117). This variant is present in population databases (rs753711190, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.His326Profs*70) 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). |