ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1273T>C (p.Cys425Arg)

dbSNP: rs797045692
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel RCV003238732 SCV003936820 uncertain significance Rett syndrome 2023-05-05 reviewed by expert panel curation The p.Cys413Arg variant in MECP2 (NM_004992.3) is absent from gnomAD (PM2_Supporting). The p.Cys413Arg variant in MECP2 (NM_004992.3) is found in a patient with an alternate molecular basis of disease (internal database) (BP5). In summary the p.Cys413Arg variant in MECP2 (NM_004992.3) is classified as a variant of unknown significance based on the ACMG/AMP criteria (PM2_Supporting, BP5).
Genetic Services Laboratory, University of Chicago RCV000194480 SCV000247945 uncertain significance not specified 2015-01-20 criteria provided, single submitter clinical testing
GeneDx RCV000194480 SCV000517862 likely benign not specified 2015-07-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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