ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.2686G>A (p.Ala896Thr)

gnomAD frequency: 0.00001  dbSNP: rs1295851671
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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 RCV002236805 SCV002510288 uncertain significance Charcot-Marie-Tooth disease type 2 2024-07-22 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 896 of the AARS protein (p.Ala896Thr). This variant is present in population databases (no rsID available, 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: 1682101). 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.
Ambry Genetics RCV003269137 SCV003986161 uncertain significance Inborn genetic diseases 2023-05-05 criteria provided, single submitter clinical testing The c.2686G>A (p.A896T) alteration is located in exon 20 (coding exon 19) of the AARS gene. This alteration results from a G to A substitution at nucleotide position 2686, causing the alanine (A) at amino acid position 896 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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