ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.2478G>A (p.Met826Ile)

gnomAD frequency: 0.00001  dbSNP: rs1385044712
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812400 SCV001471723 uncertain significance not provided 2023-12-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002241812 SCV002510188 uncertain significance Charcot-Marie-Tooth disease type 2 2022-06-09 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 826 of the AARS protein (p.Met826Ile). This variant has not been reported in the literature in individuals affected 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 993632).

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