ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.6638A>G (p.Gln2213Arg)

gnomAD frequency: 0.00013  dbSNP: rs142275662
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701537 SCV000830340 uncertain significance Epileptic encephalopathy 2024-01-15 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 2213 of the FASN protein (p.Gln2213Arg). This variant is present in population databases (rs142275662, 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: 578508). 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.
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000701537 SCV001448899 uncertain significance Epileptic encephalopathy 2019-11-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002533625 SCV003683358 uncertain significance Inborn genetic diseases 2022-01-10 criteria provided, single submitter clinical testing The c.6638A>G (p.Q2213R) alteration is located in exon 39 (coding exon 38) of the FASN gene. This alteration results from a A to G substitution at nucleotide position 6638, causing the glutamine (Q) at amino acid position 2213 to be replaced by an arginine (R). 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.