ClinVar Miner

Submissions for variant NM_016343.4(CENPF):c.7219C>T (p.Arg2407Ter)

gnomAD frequency: 0.00004  dbSNP: rs376076886
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000388597 SCV000330049 pathogenic not provided 2022-11-21 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35488810)
Neuberg Centre For Genomic Medicine, NCGM RCV004546474 SCV005042645 likely pathogenic Stromme syndrome criteria provided, single submitter clinical testing

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