ClinVar Miner

Submissions for variant NM_001395656.1(ROBO2):c.3484C>T (p.Arg1162Trp)

dbSNP: rs747971442
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000309860 SCV000446195 likely benign Vesicoureteral reflux 2 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002523457 SCV003302771 uncertain significance not provided 2022-10-16 criteria provided, single submitter clinical testing This variant is present in population databases (rs747971442, gnomAD 0.03%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1158 of the ROBO2 protein (p.Arg1158Trp). This missense change has been observed in individual(s) with clinical features of ROBO2-related conditions (PMID: 26489027). ClinVar contains an entry for this variant (Variation ID: 346706). 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. 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.
Fulgent Genetics, Fulgent Genetics RCV000309860 SCV005657775 uncertain significance Vesicoureteral reflux 2 2024-03-07 criteria provided, single submitter clinical testing

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