ClinVar Miner

Submissions for variant NM_016343.4(CENPF):c.2983C>T (p.Gln995Ter)

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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 RCV003447876 SCV004175804 likely pathogenic Stromme syndrome 2023-02-14 criteria provided, single submitter clinical testing The stop gained variant c.2983C>T (p.Gln995Ter) in the CENPF gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants has been previously reported to be disease causing (Waters et al., 2015). For these reasons, this variant has been classified as Likely Pathogenic.

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