ClinVar Miner

Submissions for variant NM_020699.4(GATAD2B):c.1661C>G (p.Ala554Gly)

gnomAD frequency: 0.00001  dbSNP: rs749141299
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001665172 SCV001874871 likely benign not provided 2021-02-17 criteria provided, single submitter clinical testing
New York Genome Center RCV001839055 SCV002099416 uncertain significance Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 2021-03-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001665172 SCV002190087 uncertain significance not provided 2024-11-28 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 554 of the GATAD2B protein (p.Ala554Gly). This variant is present in population databases (rs749141299, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. 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: 1254028). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt GATAD2B protein function with a negative predictive value of 80%. 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.

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