ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.1172G>A (p.Arg391His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002460490 SCV002755859 uncertain significance Inborn genetic diseases 2021-05-28 criteria provided, single submitter clinical testing The p.R391H variant (also known as c.1172G>A), located in coding exon 8 of the AARS gene, results from a G to A substitution at nucleotide position 1172. The arginine at codon 391 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003103063 SCV002950457 uncertain significance Charcot-Marie-Tooth disease type 2 2022-05-22 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with AARS-related conditions. This variant is present in population databases (rs766386174, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 391 of the AARS protein (p.Arg391His).

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