ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.2021C>T (p.Pro674Leu)

gnomAD frequency: 0.00029  dbSNP: rs149022686
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
Invitae RCV001278887 SCV002968167 uncertain significance Hereditary spastic paraplegia 49 2022-04-21 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 674 of the TECPR2 protein (p.Pro674Leu). This variant is present in population databases (rs149022686, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with TECPR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 990791). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV003246825 SCV003951145 uncertain significance Inborn genetic diseases 2023-05-04 criteria provided, single submitter clinical testing The c.2021C>T (p.P674L) alteration is located in exon 9 (coding exon 8) of the TECPR2 gene. This alteration results from a C to T substitution at nucleotide position 2021, causing the proline (P) at amino acid position 674 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001278887 SCV001465933 likely benign Hereditary spastic paraplegia 49 2020-08-07 no assertion criteria provided 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.