ClinVar Miner

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

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, 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.
Fulgent Genetics,Fulgent Genetics RCV000191143 SCV000893357 likely pathogenic Pontocerebellar hypoplasia type 1A 2018-10-31 criteria provided, single submitter clinical testing
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.

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