Submissions for variant NM_000278.5(PAX2):c.76G>T (p.Val26Leu)

dbSNP: rs1022509510

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001913759	SCV002185856	uncertain significance	Renal coloboma syndrome; Focal segmental glomerulosclerosis 7	2024-01-02	criteria provided, single submitter	clinical testing	This sequence change replaces valine with leucine at codon 26 of the PAX2 protein (p.Val26Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PAX2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1409546). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Institute of Human Genetics, University of Leipzig Medical Center	RCV004804297	SCV005423768	uncertain significance	Renal coloboma syndrome	2024-11-21	criteria provided, single submitter	clinical testing	Criteria applied: PM1,PM2_SUP,PP2,PP3