ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.2460A>T (p.Lys820Asn)

gnomAD frequency: 0.00002  dbSNP: rs759906749
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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 RCV001299236 SCV001488319 uncertain significance Charcot-Marie-Tooth disease type 2 2024-06-10 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 820 of the AARS protein (p.Lys820Asn). This variant is present in population databases (rs759906749, gnomAD 0.02%). 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: 1002764). 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 with a negative predictive value of 95%. 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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