ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.2177C>T (p.Thr726Met)

dbSNP: rs1480620711
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003581702 SCV004325976 uncertain significance Charcot-Marie-Tooth disease type 2 2024-12-03 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 726 of the AARS protein (p.Thr726Met). This variant is present in population databases (no rsID available, gnomAD 0.006%). 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: 545044). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV000656261 SCV000778223 likely pathogenic not provided 2016-10-07 no assertion criteria provided clinical testing

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