ClinVar Miner

Submissions for variant NM_016343.4(CENPF):c.3424A>G (p.Met1142Val)

dbSNP: rs778072776
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV001030760 SCV001190107 uncertain significance Stromme syndrome 2019-12-18 criteria provided, single submitter clinical testing The c.3424A>G variant is not present in publicly available databases like 1000 Genomes and Exome Variant Server (EVS) however present in Exome Aggregation Consortium (ExAC), Genome Aggregation Database (gnomAD) and dbSNP at a very low frequency (<0.00001), only in heterozygous state. The variant is present in our in-house exome database in heterozygous state (MAF<0.001). The variant was not reported to OMIM, ClinVar and Human Genome Mutation Database (HGMD) in any other affected individuals. Predictions from different In-silico pathogenicity prediction programs are contradictory. Due to lack of enough evidence the variant has been classified as uncertain significance as per ACMG guidelines.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.