ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.645C>T (p.Ser215=)

gnomAD frequency: 0.00002  dbSNP: rs751619327
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
Invitae RCV001858531 SCV002145334 uncertain significance Charcot-Marie-Tooth disease type 4 2022-08-06 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: 694982). This variant has not been reported in the literature in individuals affected with FIG4-related conditions. This variant is present in population databases (rs751619327, gnomAD 0.01%). This sequence change affects codon 215 of the FIG4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FIG4 protein. It affects a nucleotide within the consensus splice site.
Genesis Genome Database RCV000857164 SCV000999745 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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.