ClinVar Miner

Submissions for variant NM_001605.2(AARS1):c.1949A>G (p.Lys650Arg) (rs142233951)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493238 SCV000582460 uncertain significance not provided 2017-05-15 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the AARS gene. The K650R variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The K650R variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The K650R variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Lysine are tolerated across species. However, 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.
Genesis Genome Database RCV000857010 SCV000999578 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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