ClinVar Miner

Submissions for variant NM_005051.3(QARS1):c.1426G>A (p.Val476Ile)

gnomAD frequency: 0.00169  dbSNP: rs144092780
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000464919 SCV000517783 likely benign not provided 2021-09-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28620870, 27572814)
Mayo Clinic Laboratories, Mayo Clinic RCV000464919 SCV001714097 uncertain significance not provided 2023-02-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001521138 SCV001730411 benign Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 2025-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000464919 SCV004154533 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing QARS1: BP4
PreventionGenetics, part of Exact Sciences RCV003932582 SCV004753814 likely benign QARS1-related disorder 2019-11-13 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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