ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.151C>T (p.Gln51Ter)

dbSNP: rs886039523
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255545 SCV000322253 pathogenic not provided 2016-06-15 criteria provided, single submitter clinical testing The Q51X nonsense variant in the CHD7 gene has been reported previously in association with Kallman syndrome (Laitinen et al., 2012). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, we consider this variant to be pathogenic.

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