ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.6775+1G>T

dbSNP: rs1805573066
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001247034 SCV001420431 pathogenic CHARGE syndrome 2019-10-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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). 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. Disruption of this splice site has been observed in individuals affected with CHARGE syndrome (PMID: 29304373, Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 31 of the CHD7 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Revvity Omics, Revvity RCV001780187 SCV002019271 pathogenic not provided 2020-12-05 criteria provided, single submitter clinical testing

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