ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.602A>G (p.His201Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004771768 SCV005382505 uncertain significance Pontocerebellar hypoplasia type 6 2023-05-20 criteria provided, single submitter clinical testing The observed missense c.602A>G(p.His201Arg) variant in RARS2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency of 0.0008% in the gnomAD Exomes. The amino acid His at position 201 is changed to a Arg changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.His201Arg in RARS2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. Multiple lines of computational evidence (Polyphen - Damaging, SIFT - Damaging, and MutationTaster - Disease causing) predict a damaging effect on protein structure and function for this variant. For these reasons, this variant has been classified as Uncertain Significance.

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