ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.4303G>A (p.Glu1435Lys)

gnomAD frequency: 0.00001  dbSNP: rs756527893
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706206 SCV000835244 uncertain significance Epileptic encephalopathy 2023-10-25 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1435 of the FASN protein (p.Glu1435Lys). This variant is present in population databases (rs756527893, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with FASN-related conditions. ClinVar contains an entry for this variant (Variation ID: 582199). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Ambry Genetics RCV003165919 SCV003885612 uncertain significance Inborn genetic diseases 2023-02-16 criteria provided, single submitter clinical testing The c.4303G>A (p.E1435K) alteration is located in exon 25 (coding exon 24) of the FASN gene. This alteration results from a G to A substitution at nucleotide position 4303, causing the glutamic acid (E) at amino acid position 1435 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.