ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.829C>T (p.Arg277Ter)

gnomAD frequency: 0.00001  dbSNP: rs200032881
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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 RCV002236932 SCV002510321 uncertain significance Charcot-Marie-Tooth disease type 2 2021-05-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg277*) in the AARS gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in AARS cause disease. This variant is present in population databases (rs200032881, ExAC 0.003%). This variant has not been reported in the literature in individuals with AARS-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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