ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.726G>C (p.Met242Ile)

dbSNP: rs780360628
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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 RCV002236942 SCV002510303 uncertain significance Charcot-Marie-Tooth disease type 2 2021-12-08 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 242 of the AARS protein (p.Met242Ile). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with AARS-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%).

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