ClinVar Miner

Submissions for variant NM_004992.3(MECP2):c.590C>T (p.Thr197Met) (rs61749714)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000721033 SCV000851917 benign History of neurodevelopmental disorder 2017-08-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224787 SCV000281658 likely benign not provided 2014-12-05 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000169928 SCV000230273 benign not specified 2014-08-15 criteria provided, single submitter clinical testing
GeneDx RCV000169928 SCV000170219 benign not specified 2013-03-18 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 RCV000169928 SCV000247980 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000626211 SCV000746855 likely benign Mental retardation, X-linked, syndromic 13 2017-12-18 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000225683 SCV000746927 likely benign Rett syndrome 2017-12-18 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000225683 SCV000282492 benign Rett syndrome 2015-10-02 criteria provided, single submitter clinical testing The observed allele frequency of this variant in the large and diverse ExAC cohort is 48/87676 (1/1827) with 20 hemizygotes, suggesting that it is a benign polymorphism. The variant is classified as a polymorphism/not disease-causing in the literature, and has been shown to not co-segregate with disease in at least 2 families. Variant was observed in cis with pathogenic MECP2 variants (c.473C>T/p.T158M, c.916C>T/p.R306C) in multiple RTT patients.
Invitae RCV000458698 SCV000556731 benign Severe neonatal-onset encephalopathy with microcephaly 2017-09-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000169928 SCV000539603 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 0.1% (15/10125) South Asian chromosomes. Duplication of gene associated with intellectual disability, hypotonia, seizures, spasticity. SNVs associated with Rett syndrome.
RettBASE RCV000169928 SCV000188161 benign not specified 2013-06-12 no assertion criteria provided curation

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