ClinVar Miner

Submissions for variant NM_006885.4(ZFHX3):c.76G>T (p.Glu26Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Washington University in St. Louis RCV004555973 SCV005045079 uncertain significance not provided 2023-12-21 criteria provided, single submitter clinical testing The ZFHX3 c.76G>T (p.Glu26Ter) variant, to our knowledge, has not been reported in the medical literature and is absent from the general population (gnomAD v.2.1.1), indicating it is not a common variant. This variant results in a premature termination codon, which is predicted to lead to nonsense mediated decay. Truncating ZFHX3 variants have been recently described to be associated with a novel neurodevelopmental syndrome (Del Rocio Perez Baca M et al., PMID: 37292950). Due to limited information, the clinical significance of this variant is uncertain.

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