ClinVar Miner

Submissions for variant NM_005051.3(QARS1):c.1075del (p.His359fs)

dbSNP: rs2042451819
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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 RCV002564380 SCV002243073 pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 2022-06-14 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 QARS-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.His359Thrfs*46) in the QARS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in QARS are known to be pathogenic (PMID: 24656866, 25471517).

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