ClinVar Miner

Submissions for variant NM_006612.6(KIF1C):c.2989G>A (p.Gly997Arg)

gnomAD frequency: 0.00002  dbSNP: rs774701979
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001786869 SCV002028833 uncertain significance not provided 2021-05-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29482223)
Labcorp Genetics (formerly Invitae), Labcorp RCV002541251 SCV003258990 uncertain significance Spastic ataxia 2 2022-07-27 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. This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 997 of the KIF1C protein (p.Gly997Arg). This variant is present in population databases (rs774701979, gnomAD 0.009%). This missense change has been observed in individual(s) with ataxia (PMID: 29482223). ClinVar contains an entry for this variant (Variation ID: 1326689). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function.

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.