Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000705497 | SCV000834497 | uncertain significance | Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome | 2022-07-26 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 581615). This variant has not been reported in the literature in individuals affected with LAMB2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 176 of the LAMB2 protein (p.Arg176Gln). 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. |
Fulgent Genetics, |
RCV000705497 | SCV002786937 | uncertain significance | Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome | 2022-03-02 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV003480794 | SCV004226107 | uncertain significance | not provided | 2022-07-11 | criteria provided, single submitter | clinical testing |