Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001057551 | SCV001222049 | uncertain significance | Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome | 2023-08-17 | criteria provided, single submitter | clinical testing | 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 852849). This variant has not been reported in the literature in individuals affected with LAMB2-related conditions. This variant is present in population databases (rs148491867, gnomAD 0.04%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 629 of the LAMB2 protein (p.Pro629Leu). |
Fulgent Genetics, |
RCV001057551 | SCV002787868 | uncertain significance | Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome | 2022-04-19 | criteria provided, single submitter | clinical testing |