ClinVar Miner

Submissions for variant NM_012418.4(FSCN2):c.1104C>T (p.Val368=)

gnomAD frequency: 0.00004  dbSNP: rs751919154
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 RCV001061365 SCV001226105 uncertain significance not provided 2023-09-03 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 sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 855997). This variant has not been reported in the literature in individuals affected with FSCN2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change affects codon 368 of the FSCN2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FSCN2 protein. It affects a nucleotide within the consensus splice site.
GeneDx RCV001061365 SCV001756755 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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.