ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5607+1G>A

dbSNP: rs1554603672
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659300 SCV000781108 likely pathogenic CHARGE syndrome 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000659300 SCV001395181 pathogenic CHARGE syndrome 2019-04-25 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 27 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 observed to be de novo in an individual affected with CHARGE syndrome (PMID: 22461308). ClinVar contains an entry for this variant (Variation ID: 547194). 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.
GeneDx RCV002249389 SCV002520087 pathogenic not provided 2022-05-17 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 22461308, 29304373)
Baylor Genetics RCV000659300 SCV004041300 pathogenic CHARGE syndrome 2023-06-10 criteria provided, single submitter clinical testing

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