ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.2867C>T (p.Thr956Ile)

gnomAD frequency: 0.00001  dbSNP: rs752784549
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001984715 SCV002212091 uncertain significance Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2021-04-23 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with ATP13A2-related conditions. This variant is present in population databases (rs752784549, ExAC 0.002%). This sequence change replaces threonine with isoleucine at codon 956 of the ATP13A2 protein (p.Thr956Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine.

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.