ClinVar Miner

Submissions for variant NM_006885.4(ZFHX3):c.5179C>T (p.Gln1727Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005201406 SCV005839496 pathogenic not provided 2024-11-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1727*) in the ZFHX3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ZFHX3 are known to be pathogenic (PMID: 38412861). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ZFHX3-related conditions. For these reasons, this variant has been classified as Pathogenic.

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