ClinVar Miner

Submissions for variant NM_004560.4(ROR2):c.302C>T (p.Pro101Leu)

gnomAD frequency: 0.00001  dbSNP: rs370882834
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002476436 SCV002791587 uncertain significance Brachydactyly type B1; Autosomal recessive Robinow syndrome 2024-01-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002545032 SCV002932188 uncertain significance not provided 2023-08-04 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 ROR2 protein function. ClinVar contains an entry for this variant (Variation ID: 1012278). This missense change has been observed in individual(s) with clinical features of ROR2-related conditions (PMID: 33937263). This variant is present in population databases (rs370882834, gnomAD 0.003%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 101 of the ROR2 protein (p.Pro101Leu).
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital RCV001310267 SCV001499877 uncertain significance Short stature 2021-01-31 no assertion criteria provided research

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