Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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, |
RCV000144804 | SCV000280834 | pathogenic | not provided | 2015-09-11 | criteria provided, single submitter | clinical testing | |
Rett |
RCV000170280 | SCV000222612 | uncertain significance | Rett syndrome | 2009-11-05 | no assertion criteria provided | curation |