ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.7710del (p.Val2571fs)

dbSNP: rs2129704530
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001382918 SCV001581877 pathogenic CHARGE association 2020-04-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val2571Leufs*21) in the CHD7 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CHD7 are known to be pathogenic (PMID: 22461308, 25077900). This variant has not been reported in the literature in individuals with CHD7-related conditions. This variant is not present in population databases (ExAC no frequency).

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