ClinVar Miner

Submissions for variant NM_003384.3(VRK1):c.356A>G (p.His119Arg) (rs371295780)

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
Baylor Genetics RCV000191143 SCV000245552 likely pathogenic Pontocerebellar hypoplasia type 1A 2014-01-27 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory in trans with another missense variant [R321C] in a 33-year-old male with clinical diagnoses of distal spinal muscular atrophy and motor neuropathy.
GeneDx RCV000523462 SCV000618460 likely pathogenic not provided 2017-07-10 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the VRK1 gene. The H119R variant has been reported previously in the compound heterozygous state in multiple individuals with motor neuron disease (Nguyen et al., 2015; Stoll et al., 2016). The H119R variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The H119R variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Fulgent Genetics,Fulgent Genetics RCV000191143 SCV000893357 likely pathogenic Pontocerebellar hypoplasia type 1A 2018-10-31 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.