ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.1792C>T (p.Arg598Ter)

dbSNP: rs752548366
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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 RCV002236873 SCV002510133 pathogenic Charcot-Marie-Tooth disease type 2 2024-09-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg598*) in the AARS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AARS are known to be pathogenic (PMID: 25817015, 28493438, 34446925). This variant is present in population databases (rs752548366, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with AARS-related conditions. ClinVar contains an entry for this variant (Variation ID: 1682195). For these reasons, this variant has been classified as Pathogenic.

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