ClinVar Miner

Submissions for variant NM_020699.4(GATAD2B):c.1711C>T (p.Arg571Ter)

gnomAD frequency: 0.00001  dbSNP: rs372258374
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001765948 SCV002000641 uncertain significance not provided 2024-09-23 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation as the last 23 amino acids are lost; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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