ClinVar Miner

Submissions for variant NM_000278.5(PAX2):c.419G>T (p.Arg140Leu)

dbSNP: rs865906227
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Iowa Renal Genetics Clinic, University of Iowa RCV001169839 SCV001250669 likely pathogenic Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 2017-04-24 criteria provided, single submitter clinical testing The R140L variant was shown to segregate with disease in a family with congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerulosclerosis (FSGS). This variant meets the following ACMG criteria: PM1, PM2, PP1, PP2, PP3.

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