ClinVar Miner

Submissions for variant NM_004560.4(ROR2):c.808A>G (p.Ile270Val)

gnomAD frequency: 0.00017  dbSNP: rs145631389
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597894 SCV000703470 uncertain significance not provided 2016-12-27 criteria provided, single submitter clinical testing
Cirak Lab, University Hospital Cologne RCV000855499 SCV000996629 likely pathogenic Fetal akinesia deformation sequence 1; Arthrogryposis multiplex congenita 2019-06-28 criteria provided, single submitter research
Invitae RCV000597894 SCV001222666 uncertain significance not provided 2023-12-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 270 of the ROR2 protein (p.Ile270Val). This variant is present in population databases (rs145631389, gnomAD 0.03%). This missense change has been observed in individual(s) with clinical features of Robinow syndrome (PMID: 31680123). ClinVar contains an entry for this variant (Variation ID: 498455). 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.
GeneDx RCV000597894 SCV003933023 uncertain significance not provided 2022-12-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 31680123)

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