ClinVar Miner

Submissions for variant NM_001370100.5(ZMYND11):c.1388_1389del (p.Cys463fs)

dbSNP: rs1952647904
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092471 SCV001248995 likely pathogenic not provided 2019-08-01 criteria provided, single submitter clinical testing
Invitae RCV001092471 SCV003286341 pathogenic not provided 2022-05-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys463Serfs*6) in the ZMYND11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ZMYND11 are known to be pathogenic (PMID: 25217958). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ZMYND11-related conditions. For these reasons, this variant has been classified as Pathogenic.

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