ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.714T>G (p.Phe238Leu)

dbSNP: rs878853313
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000225601 SCV000282494 uncertain significance Rett syndrome 2015-07-30 criteria provided, single submitter clinical testing The variant of interest causes a missense change involving a non-conserved nucleotide with 3/4 in silico programs predicting a "benign" outcome, although these predictions have yet to be functionally assessed. The variant of interest was not observed in controls (ExAC, ESP, or 1000 Gs), nor has it been reported in affected individuals via publications and/or reputable databases/clinical laboratories. The variant is classified as a variant of uncertain significance until additional information becomes available.

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