ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1A>T (p.Met1Leu) (rs587783132)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144804 SCV000191030 pathogenic not provided 2016-06-15 criteria provided, single submitter clinical testing The c.1 A>T mutation in the MECP2 gene has been reported previously in association with classic Rett syndrome (Saunders et al., 2009). The mutation alters the initiator Methionine codon in the MeCP2_e1 transcript of the MECP2 gene, 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. The variant is found in INFANT-EPI panel(s)."
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000144804 SCV000280834 pathogenic not provided 2015-09-11 criteria provided, single submitter clinical testing
RettBASE RCV000170280 SCV000222612 uncertain significance Rett syndrome 2009-11-05 no assertion criteria provided curation

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