ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.943C>T (p.Arg315Ter)

gnomAD frequency: 0.00004  dbSNP: rs199835443
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200708 SCV000252164 likely pathogenic not provided 2024-11-21 criteria provided, single submitter clinical testing Observed with a second RARS2 variant in siblings with pontocerebellar hypoplasia (PMID: 33798445); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31589614, 33798445)
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995853 SCV001150233 pathogenic Pontocerebellar hypoplasia type 6 2018-08-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000200708 SCV001389556 pathogenic not provided 2024-01-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg315*) 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 present in population databases (rs199835443, gnomAD 0.01%). 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: 215061). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV000200708 SCV001961987 pathogenic not provided 2021-07-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV000995853 SCV004208427 pathogenic Pontocerebellar hypoplasia type 6 2024-01-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV000995853 SCV001455540 likely pathogenic Pontocerebellar hypoplasia type 6 2020-09-16 no assertion criteria provided clinical testing

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