ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.1145C>T (p.Pro382Leu)

gnomAD frequency: 0.00001  dbSNP: rs935989284
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
Invitae RCV001214991 SCV001386707 uncertain significance Epileptic encephalopathy 2021-02-16 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with FASN-related conditions. ClinVar contains an entry for this variant (Variation ID: 944566). This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with leucine at codon 382 of the FASN protein (p.Pro382Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine.

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.