ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.622C>T (p.Gln208Ter)

dbSNP: rs1777321509
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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 RCV001993325 SCV002234438 pathogenic not provided 2023-09-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1451754). This premature translational stop signal has been observed in individual(s) with clinical features of RARS2-related conditions (PMID: 27290639, 32571458). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln208*) 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).
Baylor Genetics RCV003471122 SCV004208438 pathogenic Pontocerebellar hypoplasia type 6 2023-07-15 criteria provided, single submitter clinical testing

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