ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.1060G>A (p.Val354Ile)

gnomAD frequency: 0.00003  dbSNP: rs762395098
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438880 SCV000529850 uncertain significance not provided 2016-07-18 criteria provided, single submitter clinical testing The V354I variant in the AARS gene has not been reported previously as a pathogenic variant, nor as a benignvariant, to our knowledge. The V354I variant was not observed in approximately 6500 individuals of European andAfrican American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant inthese populations. The V354I variant is a conservative amino acid substitution, which is not likely to impactsecondary protein structure as these residues share similar properties. This substitution occurs at a position that isconserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant isdamaging to the protein structure/function. Therefore, we interpret V354I as a variant of uncertain significance
Labcorp Genetics (formerly Invitae), Labcorp RCV002230062 SCV002510426 likely benign Charcot-Marie-Tooth disease type 2 2024-08-11 criteria provided, single submitter clinical testing

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