ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.503C>T (p.Pro168Leu)

gnomAD frequency: 0.00003  dbSNP: rs763378637
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV000999719 SCV001156506 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001049452 SCV001213501 uncertain significance Charcot-Marie-Tooth disease type 2 2025-01-30 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 168 of the AARS protein (p.Pro168Leu). This variant is present in population databases (rs763378637, gnomAD 0.004%). This missense change has been observed in individual(s) with clinical features of AARS-related conditions (PMID: 27549087, 32376792). ClinVar contains an entry for this variant (Variation ID: 810835). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on AARS protein function. 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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