Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
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). |