ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.1529G>A (p.Arg510His)

gnomAD frequency: 0.00002  dbSNP: rs202176955
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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 RCV002236889 SCV002510406 uncertain significance Charcot-Marie-Tooth disease type 2 2023-12-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 510 of the AARS protein (p.Arg510His). This variant is present in population databases (rs202176955, 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: 1682215). 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 80%. 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.
Ambry Genetics RCV003093909 SCV003636824 uncertain significance Inborn genetic diseases 2022-10-04 criteria provided, single submitter clinical testing Unlikely to be causative of AARS-related Charcot-Marie-Tooth disease, type 2 (AD) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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