Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001863342 | SCV002114504 | uncertain significance | not provided | 2022-08-16 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 499 of the LRP2 protein (p.Ser499Asn). This variant is present in population databases (rs750613446, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with LRP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1353304). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt LRP2 protein function. 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, |
RCV002482448 | SCV002786367 | uncertain significance | Donnai-Barrow syndrome | 2022-05-03 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002545756 | SCV003732220 | uncertain significance | Inborn genetic diseases | 2022-01-03 | criteria provided, single submitter | clinical testing | The c.1496G>A (p.S499N) alteration is located in exon 12 (coding exon 12) of the LRP2 gene. This alteration results from a G to A substitution at nucleotide position 1496, causing the serine (S) at amino acid position 499 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |