ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.1285G>A (p.Ala429Thr)

gnomAD frequency: 0.00001  dbSNP: rs1446399906
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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 RCV001063117 SCV001227951 uncertain significance Charcot-Marie-Tooth disease type 2 2023-04-07 criteria provided, single submitter clinical testing 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%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 429 of the AARS protein (p.Ala429Thr). ClinVar contains an entry for this variant (Variation ID: 857448). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt AARS protein function.

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