ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.3214C>T (p.Arg1072Ter)

dbSNP: rs767106034
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000344216 SCV000330884 pathogenic not provided 2016-10-18 criteria provided, single submitter clinical testing The R1072X pathogenic variant in the CHD2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1072X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R1072X as a pathogenic variant.
Mendelics RCV000989403 SCV001139722 pathogenic Developmental and epileptic encephalopathy 94 2019-05-28 criteria provided, single submitter clinical testing

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