ClinVar Miner

Submissions for variant NM_005957.4(MTHFR):c.1A>G (p.Met1Val) (rs776734688)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599118 SCV000710389 likely pathogenic not provided 2018-01-18 criteria provided, single submitter clinical testing The c.1 A>G variant in the MTHFR gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. As this variant changes the translation initiator Methionine codon, the resultant protein is described as p.Met1?, using a question mark to signify that it is not known if the loss of Met1 means that all protein translation is completely prevented or if an abnormal protein is produced using an alternate Methionine. The c.1 A>G variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.1 A>G as a likely pathogenic variant.

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