ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.1054_1055del (p.Lys352fs)

dbSNP: rs756696262
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194218 SCV000248676 likely pathogenic Pontocerebellar hypoplasia type 6 2014-08-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002517124 SCV003212508 pathogenic not provided 2023-02-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys352Alafs*15) in the RARS2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RARS2 are known to be pathogenic (PMID: 17847012, 22569581, 26083569). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RARS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 212016). For these reasons, this variant has been classified as Pathogenic.

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