ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.7357G>A (p.Ala2453Thr)

gnomAD frequency: 0.00020  dbSNP: rs148372886
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 RCV000529965 SCV000635036 likely benign Epileptic encephalopathy 2024-02-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004917640 SCV005580167 uncertain significance not specified 2024-09-26 criteria provided, single submitter clinical testing The c.7357G>A (p.A2453T) alteration is located in exon 42 (coding exon 41) of the FASN gene. This alteration results from a G to A substitution at nucleotide position 7357, causing the alanine (A) at amino acid position 2453 to be replaced by a threonine (T). 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.