ClinVar Miner

Submissions for variant NM_001128929.3(ROBO2):c.2882T>C (p.Ile961Thr) (rs267607014)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genetic Laboratory,University of Liege RCV000007521 SCV001338674 uncertain significance Vesicoureteral reflux 2 2020-02-20 criteria provided, single submitter research The variant is in a gene (ROBO2) previously associated with CAKUT in human. However, ROBO2 has never been associated with uterine malformations. This missense variant is present in a very low frequency in Gnomad (MAF:0.00001219). There is conflicting predictions among in silico prediction tools.We have identified this variant in heterozygous state in a fetus with bilateral renal anomalies and uterovaginal aplasia, the unaffected mother, the maternal aunt with unilateral renal agenesis and MRKH syndrome type 2, and a maternal cousin with unilateral renal agenesis and MRKH syndrome type 2. The observed mode of inheritance was autosomal dominant with incomplete penetrance. A pathogenic variant in the gene GREB1L was also shared by all the relatives.
Institute of Human Genetics, University of Leipzig Medical Center RCV001290228 SCV001468585 uncertain significance Congenital anomalies of kidney and urinary tract 2021-01-09 criteria provided, single submitter curation This ROBO2 variant was reported as Likely pathogenic​ in PMID: 17357069 with original nomenclature reported as c.3477T->C, I945T . Variant was re-classified as Uncertain Significance based on the criteria PM2_Supporting.
OMIM RCV000007521 SCV000027722 pathogenic Vesicoureteral reflux 2 2007-04-01 no assertion criteria provided literature only

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