ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.1152G>T (p.Lys384Asn)

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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 RCV004577125 SCV005060969 uncertain significance Pontocerebellar hypoplasia type 6 criteria provided, single submitter clinical testing The observed missense c.1152G>T (p.Lys384Asn) variant in RARS2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Lys384Asn variant is absent in gnomAD Exomes. This variant has not been submitted to the ClinVar database. The amino acid change p.Lys384Asn in RARS2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Lys at position 384 is changed to a Asn changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).

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