ClinVar Miner

Submissions for variant NM_006070.6(TFG):c.820+3G>A

gnomAD frequency: 0.00004  dbSNP: rs367852812
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001319253 SCV001509992 uncertain significance Hereditary motor and sensory neuropathy, Okinawa type; Hereditary spastic paraplegia 57 2024-01-29 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the TFG gene. It does not directly change the encoded amino acid sequence of the TFG protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs367852812, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with TFG-related conditions. ClinVar contains an entry for this variant (Variation ID: 1019766). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
GeneDx RCV001760395 SCV001991088 uncertain significance not provided 2019-06-03 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Nucleotide substitution has no predicted effect on splicing and is not conserved across species; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002431913 SCV002681426 uncertain significance Inborn genetic diseases 2021-06-23 criteria provided, single submitter clinical testing The c.820+3G>A intronic variant results from a G to A substitution 3 nucleotides after coding exon 6 in the TFG gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, 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.