Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000810768 | SCV000951001 | uncertain significance | Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome | 2023-10-03 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1258 of the LAMB2 protein (p.Leu1258Val). This variant is present in population databases (rs771785818, gnomAD 0.02%). This missense change has been observed in individual(s) with Nephrotic syndrome (PMID: 23595123). ClinVar contains an entry for this variant (Variation ID: 654751). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
Baylor Genetics | RCV001330711 | SCV001522485 | uncertain significance | LAMB2-related infantile-onset nephrotic syndrome | 2019-07-17 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Fulgent Genetics, |
RCV000810768 | SCV002789182 | uncertain significance | Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome | 2021-11-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003938172 | SCV004750593 | uncertain significance | LAMB2-related condition | 2024-02-07 | criteria provided, single submitter | clinical testing | The LAMB2 c.3772C>G variant is predicted to result in the amino acid substitution p.Leu1258Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.020% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |