ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.7349C>T (p.Thr2450Met)

gnomAD frequency: 0.00001  dbSNP: rs776351410
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000823089 SCV000963931 uncertain significance Epileptic encephalopathy 2023-09-10 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 output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 664907). This variant has not been reported in the literature in individuals affected with FASN-related conditions. This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 2450 of the FASN protein (p.Thr2450Met). This variant is present in population databases (rs776351410, gnomAD 0.01%).
Ambry Genetics RCV004619437 SCV005113540 uncertain significance not specified 2024-05-29 criteria provided, single submitter clinical testing The c.7349C>T (p.T2450M) alteration is located in exon 42 (coding exon 41) of the FASN gene. This alteration results from a C to T substitution at nucleotide position 7349, causing the threonine (T) at amino acid position 2450 to be replaced by a methionine (M). 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.