ClinVar Miner

Submissions for variant NM_020699.4(GATAD2B):c.874A>G (p.Met292Val)

gnomAD frequency: 0.00001  dbSNP: rs138922965
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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 RCV002252978 SCV002523011 likely benign See cases 2022-02-03 criteria provided, single submitter clinical testing ACMG classification criteria: BS2, BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV003094114 SCV003265701 uncertain significance not provided 2024-08-05 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 292 of the GATAD2B protein (p.Met292Val). This variant is present in population databases (rs138922965, gnomAD 0.001%). 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: 1690560). 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 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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