ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.7102A>G (p.Ile2368Val)

gnomAD frequency: 0.00001  dbSNP: rs1379750290
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
Ambry Genetics RCV004340178 SCV004060720 uncertain significance not specified 2023-09-13 criteria provided, single submitter clinical testing The c.7102A>G (p.I2368V) alteration is located in exon 41 (coding exon 40) of the FASN gene. This alteration results from a A to G substitution at nucleotide position 7102, causing the isoleucine (I) at amino acid position 2368 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005104082 SCV005817818 uncertain significance Epileptic encephalopathy 2024-09-16 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2368 of the FASN protein (p.Ile2368Val). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 2595073). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.

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.