ClinVar Miner

Submissions for variant NM_018684.4(ZC4H2):c.561+7G>A

dbSNP: rs1929057022
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262178 SCV001439957 uncertain significance Wieacker-Wolff syndrome 2019-01-01 criteria provided, single submitter clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001262178 SCV003922154 uncertain significance Wieacker-Wolff syndrome 2023-05-02 criteria provided, single submitter curation The hemizygous c.561+7G>A variant in ZC4H2 was identified by our study in one individual with Wieacker-Wolff syndrome. The c.561+7G>A variant in ZC4H2 has not been previously reported in individuals with Wieacker-Wolff syndrome. This variant was absent from large population studies. This variant has also been reported in ClinVar (Variation ID: 982608) and has been interpreted as a variant of uncertain significance by the University of Leipzig Institute of Medical Genetics. This variant is located in the 5' splice region. Computational tools do not suggest an impact to splicing. However, this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the c.561+7G>A variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting (Richards 2015).

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