ClinVar Miner

Submissions for variant NM_001395656.1(ROBO2):c.2275A>C (p.Ser759Arg)

dbSNP: rs910956713
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001290220 SCV001468582 uncertain significance Congenital anomaly of kidney and urinary tract 2021-01-10 criteria provided, single submitter curation This ROBO2 variant was reported as Uncertain Significance in PMID: 27657687 with original nomenclature reported as c.A2263C, p.S755R. Variant was re-classified as Uncertain Significance based on the criteria PM2_Supporting, PP3_Supporting.
Invitae RCV002543008 SCV003241980 uncertain significance not provided 2022-09-21 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ROBO2 protein function. ClinVar contains an entry for this variant (Variation ID: 995965). This missense change has been observed in individual(s) with congenital anomalies of kidney and urinary tract (CAKUT) (PMID: 27657687). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 755 of the ROBO2 protein (p.Ser755Arg).

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