ClinVar Miner

Submissions for variant NM_005051.3(QARS1):c.1272_1279del (p.His426fs)

dbSNP: rs1238347256
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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 RCV002563562 SCV002236191 pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 2024-11-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His426Argfs*18) 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). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with QARS-related conditions. ClinVar contains an entry for this variant (Variation ID: 1449644). For these reasons, this variant has been classified as Pathogenic.

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