ClinVar Miner

Submissions for variant NM_001370100.5(ZMYND11):c.1366C>T (p.Gln456Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004547284 SCV005042716 likely pathogenic Intellectual disability, autosomal dominant 30 criteria provided, single submitter clinical testing The stop gained c.1366C>Tp.Gln456Ter variant in ZMYND11 gene has not been reported previously as a pathogenic variant nor a benign variant, to our knowledge. The c.1366C>T variant is novel not in any individuals in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. The nucleotide change c.1366C>T in ZMYND11 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. This sequence change creates a premature translational stop signal p.Gln456Ter in the ZMYND11 gene. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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