ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.961G>T (p.Gly321Ter)

dbSNP: rs1064793994
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486665 SCV000567536 pathogenic not provided 2015-09-02 criteria provided, single submitter clinical testing The G321X nonsense variant (c.961_962delGGinsTA) in the CHD7 gene has not been reportedpreviously to our knowledge. It is predicted to cause loss of normal protein function either through proteintruncation or nonsense-mediated mRNA decay. Therefore, we interpret the G321X variant as pathogenic.

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