ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.644C>T (p.Thr215Met) (rs61749720)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel, ClinGen RCV001507027 SCV001711965 benign Rett syndrome 2021-03-26 reviewed by expert panel curation The allele frequency of the p.Thr203Met variant in MECP2 is 0.07% in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). The p.Thr203Met variant is observed in at least 2 unaffected individuals (internal database) (BS2). Computational analysis prediction tools suggest that the p.Thr203Met variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). The p.Thr203Met variant is found in a patient with an alternate molecular basis of disease (internal database) (BP5). In summary, the p.Thr203Met variant in MECP2 is classified as benign based on the ACMG/AMP criteria (BA1, BS2, BP4, BP5).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000081206 SCV000113114 benign not specified 2013-03-08 criteria provided, single submitter clinical testing
GeneDx RCV000081206 SCV000170222 benign not specified 2016-07-13 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.
Genetic Services Laboratory, University of Chicago RCV000081206 SCV000247982 benign not specified 2017-06-22 criteria provided, single submitter clinical testing
Invitae RCV001079342 SCV000288787 benign Severe neonatal-onset encephalopathy with microcephaly 2020-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719469 SCV000850336 benign History of neurodevelopmental disorder 2016-12-06 criteria provided, single submitter clinical testing Co-occurence with mutation in same gene (phase unknown);Does not segregate in family study ;Does not segregate with disease in family study (genes with incomplete penetrance);General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign);Other data supporting benign classification;Subpopulation frequency in support of benign classification
CeGaT Praxis fuer Humangenetik Tuebingen RCV000232718 SCV001150517 likely benign not provided 2019-06-01 criteria provided, single submitter clinical testing
RettBASE RCV000081206 SCV000188169 benign not specified 2012-08-10 no assertion criteria provided curation

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.