ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.1312A>T (p.Lys438Ter)

gnomAD frequency: 0.00001  dbSNP: rs1419422047
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001542407 SCV001761106 likely pathogenic Pontocerebellar hypoplasia type 6 2020-07-03 criteria provided, single submitter clinical testing
Invitae RCV003708605 SCV004477446 pathogenic not provided 2023-06-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys438*) 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: 1184397). For these reasons, this variant has been classified as Pathogenic.

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