Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001959636 | SCV002253104 | uncertain significance | Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 | 2022-06-13 | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with PAX2-related conditions. This variant is present in population databases (rs764844605, gnomAD 0.0009%). This sequence change replaces valine with alanine at codon 166 of the PAX2 protein (p.Val166Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine. |