Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000410525 | SCV000487052 | likely pathogenic | Junctional epidermolysis bullosa gravis of Herlitz | 2016-10-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003574767 | SCV004338005 | pathogenic | not provided | 2023-10-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp344Valfs*53) 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 not present in population databases (gnomAD no frequency). 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: 371462). For these reasons, this variant has been classified as Pathogenic. |