ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.958C>T (p.Arg320Cys)

gnomAD frequency: 0.00007  dbSNP: rs138490305
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000545105 SCV000657682 uncertain significance Charcot-Marie-Tooth disease type 2 2025-01-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 320 of the AARS protein (p.Arg320Cys). This variant is present in population databases (rs138490305, gnomAD 0.006%). This missense change has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 32376792). ClinVar contains an entry for this variant (Variation ID: 476745). 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) indicates that this missense variant is expected to disrupt AARS protein function with a positive 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.
Molecular Genetics Laboratory, London Health Sciences Centre RCV000999722 SCV001156509 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Ambry Genetics RCV002461363 SCV002755315 uncertain significance Inborn genetic diseases 2023-06-01 criteria provided, single submitter clinical testing The c.958C>T (p.R320C) alteration is located in exon 7 (coding exon 6) of the AARS gene. This alteration results from a C to T substitution at nucleotide position 958, causing the arginine (R) at amino acid position 320 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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