ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.1754T>C (p.Met585Thr) (rs374378925)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235889 SCV000293674 uncertain significance not provided 2015-12-30 criteria provided, single submitter clinical testing The M585T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed with any significant frequency in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The M585T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved 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 RCV000857180 SCV000999762 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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