ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.312G>A (p.Trp104Ter)

gnomAD frequency: 0.00001  dbSNP: rs1398433261
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002239845 SCV002510384 pathogenic Charcot-Marie-Tooth disease type 2 2023-07-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp104*) 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 (no rsID available, gnomAD 0.01%). 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: 1682320). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV002247706 SCV002517471 pathogenic Charcot-Marie-Tooth disease axonal type 2N 2022-05-04 criteria provided, single submitter clinical testing
DASA RCV002247706 SCV002600251 likely pathogenic Charcot-Marie-Tooth disease axonal type 2N 2022-11-03 criteria provided, single submitter clinical testing The c.312G>A;p.(Trp104*) variant creates a premature translational stop signal in the AARS1 gene. It is expected to result in an absent or disrupted protein product - PVS1. The variant is present at low allele frequencies population databases (rs1398433261 – gnomAD 0.00006573%; ABraOM no frequency - https://abraom.ib.usp.br/) - PM2_supporting. In summary, the currently available evidence indicates that the variant is likely pathogenic.

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