ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.1967delinsAGGTGATTGAGG (p.Ala656fs)

dbSNP: rs1597435790
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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 RCV000792801 SCV000932122 pathogenic Charcot-Marie-Tooth disease type 2 2023-02-06 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 AARS-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change creates a premature translational stop signal (p.Ala656Glufs*8) 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).

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