ClinVar Miner

Submissions for variant NM_020699.4(GATAD2B):c.751G>A (p.Ala251Thr)

dbSNP: rs1352649088
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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 RCV001887859 SCV002125596 uncertain significance not provided 2023-09-05 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 GATAD2B protein function. ClinVar contains an entry for this variant (Variation ID: 1354705). This missense change has been observed in individual(s) with clinical features of GATAD2B-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 251 of the GATAD2B protein (p.Ala251Thr).
Ambry Genetics RCV003264129 SCV003972890 uncertain significance Inborn genetic diseases 2023-04-07 criteria provided, single submitter clinical testing The c.751G>A (p.A251T) alteration is located in exon 6 (coding exon 5) of the GATAD2B gene. This alteration results from a G to A substitution at nucleotide position 751, causing the alanine (A) at amino acid position 251 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003339765 SCV004050303 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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