ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3990-10T>A

dbSNP: rs1403502176
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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 RCV003603884 SCV004558979 uncertain significance CHARGE syndrome 2023-07-29 criteria provided, single submitter clinical testing This sequence change falls in intron 16 of the CHD7 gene. It does not directly change the encoded amino acid sequence of the CHD7 protein. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with CHD7-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV004593447 SCV005080305 uncertain significance not provided 2023-12-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge

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