ClinVar Miner

Submissions for variant NM_004560.4(ROR2):c.2014G>T (p.Asp672Tyr)

dbSNP: rs55651110
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002244142 SCV002512449 uncertain significance Autosomal recessive Robinow syndrome 2021-06-01 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, PP3
Labcorp Genetics (formerly Invitae), Labcorp RCV003120847 SCV003785187 uncertain significance not provided 2022-08-08 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: 1683621). This variant has not been reported in the literature in individuals affected with ROR2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 672 of the ROR2 protein (p.Asp672Tyr).

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