ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1A>G (p.Met1Val) (rs1325661354)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578605 SCV000680782 pathogenic not provided 2015-11-09 criteria provided, single submitter clinical testing The c.1 A>G 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. Therefore, we interpret c.1 A>G to be a pathogenic variant."

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