ClinVar Miner

Submissions for variant NM_020699.4(GATAD2B):c.1196del (p.Gln399fs) (rs1553188054)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519899 SCV000618578 pathogenic not provided 2017-06-26 criteria provided, single submitter clinical testing The c.1196delA variant in the GATAD2B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1196delA variant causes a frameshift starting with codon Glutamine 399, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 47 of the new reading frame, denoted p.Gln399ArgfsX47. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1196delA variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1196delA as a pathogenic variant
GenomeConnect, ClinGen RCV000709796 SCV000840121 not provided GATAD2B-Related Disorder no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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