ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.1180C>T (p.Arg394Cys) (rs916967743)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498768 SCV000590123 uncertain significance not provided 2017-06-08 criteria provided, single submitter clinical testing The R394C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R394C variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R394C 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. In silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173649 SCV001336751 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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