ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.1614A>C (p.Gln538His)

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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 RCV003745203 SCV004548806 uncertain significance Charcot-Marie-Tooth disease type 2 2022-12-31 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with AARS-related conditions. This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 538 of the AARS protein (p.Gln538His). This variant is present in population databases (rs762184373, gnomAD 0.007%). 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 expected to disrupt 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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