ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.2186G>A (p.Arg729Gln)

gnomAD frequency: 0.00005  dbSNP: rs142850278
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236790 SCV000293369 uncertain significance not provided 2016-07-29 criteria provided, single submitter clinical testing The R729Q has been reported in an individual with an inherited neuropathy, however it was also reported in control individuals (Schabhüttl et al., 2014). It was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, nor with any significant frequency in the 1000 Genomes Project. The R729Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position that is not conserved, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000704888 SCV000833860 likely benign Charcot-Marie-Tooth disease type 2 2025-01-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765312 SCV000896567 uncertain significance Charcot-Marie-Tooth disease axonal type 2N; Developmental and epileptic encephalopathy, 29 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002461032 SCV002755355 likely benign Inborn genetic diseases 2022-06-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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