ClinVar Miner

Submissions for variant NM_018684.4(ZC4H2):c.631C>T (p.Arg211Trp)

dbSNP: rs1555933616
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521213 SCV000619821 likely pathogenic not provided 2022-05-10 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genomic Medicine Lab, University of California San Francisco RCV001375995 SCV001572998 likely pathogenic Wieacker-Wolff syndrome 2019-06-20 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV001375995 SCV002581693 likely pathogenic Wieacker-Wolff syndrome 2022-08-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004758699 SCV005343286 uncertain significance ZC4H2-related disorder 2024-03-06 no assertion criteria provided clinical testing The ZC4H2 c.631C>T variant is predicted to result in the amino acid substitution p.Arg211Trp. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as likely pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/451159/). Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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