ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3379-2A>C

dbSNP: rs864622523
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205203 SCV000260969 pathogenic CHARGE syndrome 2018-02-22 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 13 of the CHD7 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in an individual affected with CHARGE syndrome (Invitae). ClinVar contains an entry for this variant (Variation ID: 220434). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CHD7 are known to be pathogenic (PMID: 22461308, 25077900). For these reasons, this variant has been classified as Pathogenic.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000205203 SCV000781106 likely pathogenic CHARGE syndrome 2016-11-01 criteria provided, single submitter clinical testing

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