ClinVar Miner

Submissions for variant NM_018684.4(ZC4H2):c.226-8T>A

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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 RCV002838277 SCV003216167 pathogenic not provided 2023-06-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 2009301). This variant has been observed in individual(s) with clinical features of ZC4H2-related conditions (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 2 of the ZC4H2 gene. It does not directly change the encoded amino acid sequence of the ZC4H2 protein.
GeneDx RCV002838277 SCV005371875 uncertain significance not provided 2023-07-10 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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