Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Human Genetic Laboratory, |
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, |
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 |