ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.3302C>T (p.Ser1101Leu)

gnomAD frequency: 0.00002  dbSNP: rs143739434
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001368698 SCV001565104 uncertain significance Epileptic encephalopathy 2024-06-28 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 1101 of the FASN protein (p.Ser1101Leu). This variant is present in population databases (rs143739434, gnomAD 0.01%). 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: 1059422). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The leucine 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810726 SCV002049149 uncertain significance not provided 2021-09-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004037052 SCV004869695 uncertain significance not specified 2022-07-06 criteria provided, single submitter clinical testing The c.3302C>T (p.S1101L) alteration is located in exon 21 (coding exon 20) of the FASN gene. This alteration results from a C to T substitution at nucleotide position 3302, causing the serine (S) at amino acid position 1101 to be replaced by a leucine (L). 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.