Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV001535880 | SCV001752499 | likely pathogenic | Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome | 2021-06-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001535880 | SCV003034001 | pathogenic | Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome | 2022-07-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys522Valfs*46) in the LAMB2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LAMB2 are known to be pathogenic (PMID: 15367484). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1179056). This variant has not been reported in the literature in individuals affected with LAMB2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). |