ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.818G>A (p.Arg273His)

gnomAD frequency: 0.00011  dbSNP: rs144069125
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001239107 SCV001411957 uncertain significance Hereditary spastic paraplegia 49 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 273 of the TECPR2 protein (p.Arg273His). This variant is present in population databases (rs144069125, gnomAD 0.03%). 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: 964805). 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.
Baylor Genetics RCV001239107 SCV001522279 uncertain significance Hereditary spastic paraplegia 49 2020-05-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847203 SCV002105970 uncertain significance Hereditary spastic paraplegia 2019-05-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001239107 SCV002780954 uncertain significance Hereditary spastic paraplegia 49 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002563934 SCV003709282 uncertain significance Inborn genetic diseases 2021-07-14 criteria provided, single submitter clinical testing The c.818G>A (p.R273H) alteration is located in exon 6 (coding exon 5) of the TECPR2 gene. This alteration results from a G to A substitution at nucleotide position 818, causing the arginine (R) at amino acid position 273 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004692284 SCV005194285 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV001239107 SCV002087998 uncertain significance Hereditary spastic paraplegia 49 2019-12-09 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.