ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.1055dup (p.His353fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002735453 SCV003010891 pathogenic not provided 2023-03-03 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1970672). This sequence change creates a premature translational stop signal (p.His353Alafs*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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with RARS2-related conditions. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003464590 SCV004208477 pathogenic Pontocerebellar hypoplasia type 6 2024-02-29 criteria provided, single submitter clinical testing

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