ClinVar Miner

Submissions for variant NM_000254.2(MTR):c.1_2del (p.Met1fs) (rs1367402633)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000518922 SCV000621108 likely pathogenic not provided 2017-10-11 criteria provided, single submitter clinical testing The c.1_2delAT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1_2delAT variant is not observed in large population cohorts (Lek et al., 2016). The c.1_2delAT variant alters the initiator Methionine codon, and the resultant protein would be 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 Met. In summary, we interpret this variant as likely pathogenic."

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