ClinVar Miner

Submissions for variant NM_016343.4(CENPF):c.574-2A>C

gnomAD frequency: 0.00001  dbSNP: rs376767238
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000170524 SCV000223089 pathogenic Stromme syndrome 2015-03-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV004752769 SCV005351091 pathogenic CENPF-related disorder 2024-09-17 no assertion criteria provided clinical testing The CENPF c.574-2A>C variant is predicted to disrupt the AG splice acceptor site and interfere with normal splicing. This variant has been reported in the compound heterozygous state in four siblings with a ciliopathy-like presentation (Figure S3, Waters et al. 2015. PubMed ID: 25564561). This variant has not been reported in a large population database, indicating this variant is rare. Variants that disrupt the consensus splice acceptor site in CENPF are expected to be pathogenic. This variant is interpreted as pathogenic.

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