ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.2403C>G (p.Ala801=)

gnomAD frequency: 0.00001  dbSNP: rs771133578
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001444768 SCV001647779 likely benign Charcot-Marie-Tooth disease type 2 2024-10-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004751985 SCV005354095 likely benign AARS1-related disorder 2019-03-21 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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