ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.4565-3_4565-1dup (rs764277201)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526398 SCV000634984 uncertain significance Epileptic encephalopathy 2018-06-22 criteria provided, single submitter clinical testing This variant, c.4565-3_4565-1dupTAG, duplicates 3 nucleotides in intron 26 of the FASN mRNA, including the canonical splice site. It is expected to either insert 1 amino acid to the FASN protein (p.Glu1521_Asp1522insVal) or to have no protein effect. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with a FASN-related disease. ClinVar contains an entry for this variant (Variation ID: 462057). Experimental studies have not been reported for this variant. If the canonical splice site is maintained and the duplicated sequence is translated, then this variant is expected to result in an in-frame insertion. However, if the canonical splice site is not used, alternative splicing using the newly created splice site would likely have no effect on the translated protein. In summary, this variant has uncertain impact on FASN function. The available evidence is currently insufficient to determine its role 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.