ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.3481G>A (p.Gly1161Arg)

gnomAD frequency: 0.00001  dbSNP: rs776490050
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 RCV002024482 SCV002307973 uncertain significance Hereditary spastic paraplegia 39 2022-08-02 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1123 of the PNPLA6 protein (p.Gly1123Arg). This variant is present in population databases (rs776490050, gnomAD 0.009%). This missense change has been observed in individual(s) with PNPLA6-related conditions (PMID: 32758583). ClinVar contains an entry for this variant (Variation ID: 1519266). 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 disruptive. 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.

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.