ClinVar Miner

Submissions for variant NM_020699.4(GATAD2B):c.1459C>T (p.Pro487Ser)

gnomAD frequency: 0.00001  dbSNP: rs1230061825
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501468 SCV000594933 uncertain significance not specified 2015-09-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001857103 SCV002208086 uncertain significance not provided 2023-05-20 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. This variant has not been reported in the literature in individuals affected with GATAD2B-related conditions. ClinVar contains an entry for this variant (Variation ID: 435287). 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 GATAD2B protein function. This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 487 of the GATAD2B protein (p.Pro487Ser). This variant is not present in population databases (gnomAD no frequency).
Genome-Nilou Lab RCV003338619 SCV004050283 uncertain significance Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 2023-04-11 criteria provided, single submitter clinical testing

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