ClinVar Miner

Submissions for variant NM_058004.4(PI4KA):c.1852C>T (p.Arg618Ter)

dbSNP: rs201395198
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
DASA RCV002221703 SCV002498801 likely pathogenic Spastic paraplegia 84, autosomal recessive 2022-04-10 criteria provided, single submitter clinical testing The c.1852C>T;p.(Arg618)* variant creates a premature translational stop signal in the PI4KA gene. It is expected to result in an absent or disrupted protein product -PVS1. The variant is present at low allele frequencies population databases (rs201395198 – gnomAD 0.001006%; ABraOM no frequency - http://abraom.ib.usp.br) - PM2_supporting. In summary, the currently available evidence indicates that the variant is likely pathogenic
PreventionGenetics, part of Exact Sciences RCV004533974 SCV004733030 likely pathogenic PI4KA-related disorder 2023-12-04 criteria provided, single submitter clinical testing The PI4KA c.1852C>T variant is predicted to result in premature protein termination (p.Arg618*). This variant, along with another variant in PI4KA, was reported in an individual with a neurodevelopmental syndrome with hypomyelinating leukodystrophy (Supplemental Table 1, P5, Verdura et al. 2021. PubMed ID: 34415322). This variant is reported in 0.31% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. Nonsense variants in PI4KA are expected to be pathogenic. This variant is interpreted as likely pathogenic.
Undiagnosed Diseases Network, NIH RCV003164309 SCV003915638 uncertain significance Phenylketonuria 2022-11-29 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.