Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666447 | SCV000790740 | likely pathogenic | Junctional epidermolysis bullosa gravis of Herlitz | 2017-04-06 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000762877 | SCV000893257 | likely pathogenic | Amelogenesis imperfecta type 1A; Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002530685 | SCV003524004 | pathogenic | not provided | 2023-12-14 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 11 of the LAMB3 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and 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). Disruption of this splice site has been observed in individual(s) with junctional epidermolysis bullosa (PMID: 25708563). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 551396). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |