ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.1170T>G (p.Tyr390Ter)

dbSNP: rs554737227
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427644 SCV000517294 pathogenic not provided 2015-05-19 criteria provided, single submitter clinical testing The Y390X nonsense variant in the CHD7 gene has been reported previously in association with CHARGEsyndrome (Janssen et al., 2012). It was notobserved in approximately 6,500 individuals of European and African American ancestry in the NHLBI ExomeSequencing Project, indicating it is not a common benign variant in these populations. In addition, thisvariant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, we consider Y390X to be a pathogenic variant
Labcorp Genetics (formerly Invitae), Labcorp RCV001390950 SCV001592856 pathogenic CHARGE syndrome 2021-08-31 criteria provided, single submitter clinical testing

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