ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.511C>T (p.Gln171Ter)

dbSNP: rs1563560018
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760386 SCV000890251 pathogenic not provided 2018-07-12 criteria provided, single submitter clinical testing The Q171X variant in the CHD7 gene has been reported previously in association with CHARGE syndrome (Bartels et al., 2010). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q171X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q171X as a pathogenic variant.
Baylor Genetics RCV001329006 SCV001520292 pathogenic CHARGE association 2023-05-10 criteria provided, single submitter clinical testing

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