ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.2196dup (p.Pro733fs)

dbSNP: rs2150697832
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001385683 SCV001585631 pathogenic CHARGE association 2020-06-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro733Thrfs*6) in the CHD7 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of CHARGE syndrome (PMID: 22461308). A different variant (c.2195dup) giving rise to the same protein effect observed here (p.Pro733Thrfs*6) has been determined to be pathogenic (Invitae). This suggests that this variant is also likely to be causative of disease. Loss-of-function variants in CHD7 are known to be pathogenic (PMID: 22461308, 25077900). For these reasons, this variant has been classified as Pathogenic.

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