ClinVar Miner

Submissions for variant NM_004560.4(ROR2):c.2240G>A (p.Arg747Gln)

gnomAD frequency: 0.00010  dbSNP: rs201155263
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000659115 SCV000339661 uncertain significance not provided 2016-02-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000659115 SCV000780928 uncertain significance not provided 2023-05-01 criteria provided, single submitter clinical testing ROR2: PM5
Labcorp Genetics (formerly Invitae), Labcorp RCV000659115 SCV001498601 uncertain significance not provided 2024-05-31 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 747 of the ROR2 protein (p.Arg747Gln). This variant is present in population databases (rs201155263, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with ROR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 286293). 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 ROR2 protein function with a negative predictive value of 80%. 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.
Ambry Genetics RCV002519220 SCV003710050 uncertain significance Inborn genetic diseases 2022-05-09 criteria provided, single submitter clinical testing The c.2240G>A (p.R747Q) alteration is located in exon 9 (coding exon 9) of the ROR2 gene. This alteration results from a G to A substitution at nucleotide position 2240, causing the arginine (R) at amino acid position 747 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV000659115 SCV005195452 uncertain significance not provided criteria provided, single submitter not provided
Fulgent Genetics, Fulgent Genetics RCV005049514 SCV005682257 likely benign Brachydactyly type B1; Autosomal recessive Robinow syndrome 2024-04-26 criteria provided, single submitter clinical testing

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