Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000015646 | SCV000794195 | pathogenic | Junctional epidermolysis bullosa gravis of Herlitz | 2017-09-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003556026 | SCV004292365 | pathogenic | not provided | 2024-01-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp610*) 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 premature translational stop signal has been observed in individual(s) with junctional epidermolysis bullosa (PMID: 9457915). ClinVar contains an entry for this variant (Variation ID: 14545). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000015646 | SCV000035911 | pathogenic | Junctional epidermolysis bullosa gravis of Herlitz | 1998-02-01 | no assertion criteria provided | literature only |