Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001363574 | SCV001559691 | uncertain significance | Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome | 2021-09-09 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs149601073, ExAC 0.002%). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with LAMB2-related conditions. This sequence change replaces arginine with histidine at codon 1581 of the LAMB2 protein (p.Arg1581His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. |
Fulgent Genetics, |
RCV001363574 | SCV002816153 | uncertain significance | Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome | 2021-12-22 | criteria provided, single submitter | clinical testing |