ClinVar Miner

Submissions for variant NM_004560.4(ROR2):c.1771G>A (p.Asp591Asn)

gnomAD frequency: 0.00002  dbSNP: rs768175141
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001917758 SCV002172277 uncertain significance not provided 2023-09-05 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1399575). 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 expected to disrupt ROR2 protein function. This variant has not been reported in the literature in individuals affected with ROR2-related conditions. This variant is present in population databases (rs768175141, gnomAD 0.006%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 591 of the ROR2 protein (p.Asp591Asn).
Fulgent Genetics, Fulgent Genetics RCV002506992 SCV002815820 uncertain significance Brachydactyly type B1; Autosomal recessive Robinow syndrome 2022-03-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001917758 SCV005195453 uncertain significance not provided criteria provided, single submitter not provided

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