ClinVar Miner

Submissions for variant NM_003990.5(PAX2):c.239C>T (p.Pro80Leu) (rs1554856032)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549890 SCV000641106 pathogenic Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 2017-09-17 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 80 of the PAX2 protein (p.Pro80Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with focal segmental glomerulosclerosis (PMID: 24676634). In addition, family studies have indicated that this variant was not present in the parents of an individual with PAX2-related disease, which suggests that it was de novo in that affected individual (Invitae). Experimental studies have shown that this missense change impairs DNA-binding leading to decreased transactivation in vitro (PMID: 24676634). For these reasons, this variant has been classified as Pathogenic.

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