ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.2488G>C (p.Gly830Arg)

gnomAD frequency: 0.00002  dbSNP: rs1244234383
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000646160 SCV000767918 uncertain significance Hereditary spastic paraplegia 39 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 792 of the PNPLA6 protein (p.Gly792Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with PNPLA6-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: "Deleterious"; PolyPhen-2: "Probably 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.
GeneDx RCV001766388 SCV001990989 uncertain significance not provided 2019-10-04 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; A different missense change at this residue (G792E) has been reported in the published literature (Synofzik et al., 2014)
Mayo Clinic Laboratories, Mayo Clinic RCV001766388 SCV002541489 uncertain significance not provided 2021-10-21 criteria provided, single submitter 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.