ClinVar Miner

Submissions for variant NM_000481.4(AMT):c.870G>A (p.Trp290Ter)

dbSNP: rs797045082
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000190566 SCV000245575 pathogenic Glycine encephalopathy 2014-10-16 criteria provided, single submitter clinical testing The Trp290X variant in AMT has not been previously reported in individuals with glycine encephalopathy or in large population studies. This nonsense variant leads to a premature termination codon at position 290 which is predicted to lead to a truncated or absent protein. Complete loss of AMT function is an established disease mechanism in glycine encephalopathy. In summary, this variant meets our criteria to be classified as pathogenic for glycine encephalopathy in a recessive manner (http://personalizedmedicine.partners.org/Laboratory-For-Molecular-Medicine/).

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