ClinVar Miner

Submissions for variant NM_001040436.3(YARS2):c.113dup (p.Leu38fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003855160 SCV004663378 pathogenic not provided 2023-07-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with YARS2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu38Phefs*112) in the YARS2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in YARS2 are known to be pathogenic (PMID: 20598274, 24344687, 25638461).

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