ClinVar Miner

Submissions for variant NM_002524.5(NRAS):c.504G>C (p.Met168Ile)

gnomAD frequency: 0.00001  dbSNP: rs367918552
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000680367 SCV000620529 uncertain significance not provided 2017-08-30 criteria provided, single submitter clinical testing The M168I variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The M168I variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The M168I 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 Methionine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. The NRAS gene has a very low rate of benign missense variants. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
ITMI RCV000121741 SCV000085939 not provided not specified 2013-09-19 no assertion provided reference population

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