ClinVar Miner

Submissions for variant NM_004560.4(ROR2):c.1675G>A (p.Gly559Ser)

gnomAD frequency: 0.00019  dbSNP: rs117134265
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732649 SCV000860625 likely benign not specified 2018-04-17 criteria provided, single submitter clinical testing
Cirak Lab, University Hospital Cologne RCV000855500 SCV000996630 likely pathogenic Fetal akinesia deformation sequence 1; Arthrogryposis multiplex congenita 2019-06-28 criteria provided, single submitter research
Invitae RCV000903196 SCV001047652 likely benign not provided 2023-12-30 criteria provided, single submitter clinical testing
GeneDx RCV000903196 SCV002559389 uncertain significance not provided 2022-01-27 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect on Wnt5a-ROR2 pathway regulation (Gui et al., 2021); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Identified in the heterozygous state in patients with short stature in published literature, although familial segregation information was not included (Gui et al., 2021); Observed with a variant on the opposite allele (in trans) in fetuses with fetal akinesia and with features of thanatophoric dysplasia in published literature, but additional clinical information was not provided (Pergande et al., 2020; Chen et al., 2020); This variant is associated with the following publications: (PMID: 32502767, 34426522, 33937263, 31680123)
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital RCV001310261 SCV001499871 likely pathogenic Short stature 2021-01-31 no assertion criteria provided curation

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