Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000998076 | SCV001153953 | uncertain significance | not provided | 2016-05-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001242837 | SCV001415951 | uncertain significance | Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome | 2022-10-31 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 723 of the LAMB2 protein (p.Arg723Cys). This variant is present in population databases (rs145660751, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with LAMB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 809486). 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. 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. |
Ambry Genetics | RCV002549994 | SCV003684556 | uncertain significance | Inborn genetic diseases | 2021-09-15 | criteria provided, single submitter | clinical testing | The c.2167C>T (p.R723C) alteration is located in exon 17 (coding exon 17) of the LAMB2 gene. This alteration results from a C to T substitution at nucleotide position 2167, causing the arginine (R) at amino acid position 723 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |