Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Baylor Genetics | RCV001335017 | SCV001528046 | likely pathogenic | LAMB2-related infantile-onset nephrotic syndrome | 2018-12-18 | criteria provided, single submitter | clinical testing | This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
| Fulgent Genetics, |
RCV002504793 | SCV002809837 | likely pathogenic | Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome | 2022-04-15 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV002504793 | SCV003305635 | pathogenic | Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome | 2024-08-20 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 246 of the LAMB2 protein (p.Arg246Trp). This variant is present in population databases (rs121912488, gnomAD 0.003%). This missense change has been observed in individuals with nephrotic syndrome (PMID: 15367484, 18672223, 29127259, 30295827). ClinVar contains an entry for this variant (Variation ID: 14530). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Studies have shown that this missense change alters LAMB2 gene expression (PMID: 15367484). For these reasons, this variant has been classified as Pathogenic. |
| OMIM | RCV000015629 | SCV000035894 | pathogenic | Pierson syndrome | 2004-11-01 | no assertion criteria provided | literature only | |
| Yale Center for Mendelian Genomics, |
RCV001849266 | SCV002106724 | likely pathogenic | Nephrotic syndrome | 2017-11-10 | no assertion criteria provided | literature only |