ClinVar Miner

Submissions for variant NM_004992.3(MECP2):c.650C>T (p.Pro217Leu) (rs878853312)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000225456 SCV000282493 likely pathogenic Rett syndrome 2015-07-08 criteria provided, single submitter clinical testing This missense variant involves the alteration of a conserved nucleotide and 4/4 in silico tools predict a pathogenic outcome. The variant of interest was absent from a large, broad control population (ExAC) and has not been found in affected individuals via publications and/or reputable databases/laboratories. However, an internal sample reports the variant occurring as a de novo event, in which the patient presented with encephalopathy, microcephaly and delayed milestones.

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