Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001921256 | SCV002189446 | uncertain significance | Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 | 2024-05-09 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 282 of the PAX2 protein (p.Ser282Leu). This variant is present in population databases (rs757989097, gnomAD 0.02%), including at least one homozygous and/or hemizygous individual. This missense change has been observed in individual(s) with congenital anomalies of the kidney and urinary tract (PMID: 34979951). ClinVar contains an entry for this variant (Variation ID: 1416472). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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, |
RCV001921256 | SCV002815042 | uncertain significance | Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 | 2022-05-31 | criteria provided, single submitter | clinical testing |