ClinVar Miner

Submissions for variant NM_016343.4(CENPF):c.4999C>T (p.Arg1667Ter)

gnomAD frequency: 0.00008  dbSNP: rs375014198
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330723 SCV001522499 likely pathogenic Stromme syndrome 2019-12-30 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV002274188 SCV002559139 pathogenic Neurodevelopmental delay criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV001330723 SCV004046940 likely pathogenic Stromme syndrome criteria provided, single submitter clinical testing The stop gained c.4999C>T (p.Arg1667Ter) variant in CENPF gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Arg1667Ter variant is novel (not in any individuals) in gnomAD Exomes and in 1000 Genomes. The nucleotide change in CENPF is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. 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. No significant reportable CENPF variant detected in the spouse.

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