Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001203735 | SCV001374911 | uncertain significance | Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome | 2022-06-04 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 935194). This variant has not been reported in the literature in individuals affected with LAMB2-related conditions. This variant is present in population databases (rs149325182, gnomAD 0.08%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 200 of the LAMB2 protein (p.Val200Ile). |
| Athena Diagnostics Inc | RCV001288665 | SCV001475943 | uncertain significance | not provided | 2020-08-03 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002561132 | SCV003705560 | uncertain significance | Inborn genetic diseases | 2021-12-03 | criteria provided, single submitter | clinical testing | The c.598G>A (p.V200I) alteration is located in exon 5 (coding exon 5) of the LAMB2 gene. This alteration results from a G to A substitution at nucleotide position 598, causing the valine (V) at amino acid position 200 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |