Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001295481 | SCV001484404 | uncertain significance | Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome | 2023-06-30 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with LAMB2-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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. ClinVar contains an entry for this variant (Variation ID: 999478). This variant is present in population databases (rs200316162, gnomAD 0.009%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 263 of the LAMB2 protein (p.Arg263Trp). |
Fulgent Genetics, |
RCV001295481 | SCV002786898 | uncertain significance | Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome | 2022-02-18 | criteria provided, single submitter | clinical testing |