ClinVar Miner

Submissions for variant NM_006070.6(TFG):c.773C>T (p.Pro258Leu)

gnomAD frequency: 0.00001  dbSNP: rs752762145
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 RCV001996554 SCV002287091 uncertain significance Hereditary motor and sensory neuropathy, Okinawa type; Hereditary spastic paraplegia 57 2021-06-23 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 258 of the TFG protein (p.Pro258Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs752762145, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with TFG-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV004045924 SCV004964754 uncertain significance Inborn genetic diseases 2023-12-18 criteria provided, single submitter clinical testing The c.773C>T (p.P258L) alteration is located in exon 7 (coding exon 6) of the TFG gene. This alteration results from a C to T substitution at nucleotide position 773, causing the proline (P) at amino acid position 258 to be replaced by a leucine (L). 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.