ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg) (rs61749715)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000476280 SCV000544623 pathogenic Severe neonatal-onset encephalopathy with microcephaly 2019-10-07 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 225 of the MECP2 protein (p.Pro225Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is not present in population databases (rs61749715, ExAC no frequency). This variant has been reported in many individuals affected with either classic or atypical Rett syndrome (PMID: 10767337, 10854091, 11524741, 12075485, 12111643, 16473305, 16690727, 17142618). In at least two of these cases, this variant was shown to arise de novo (PMID: 10767337, 10854091). ClinVar contains an entry for this variant (Variation ID: 143653). For these reasons, this variant has been classified as Pathogenic.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626873 SCV000747576 pathogenic Seizures; Absent speech; Developmental regression; Severe global developmental delay; Irregular respiration 2017-01-01 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090502 SCV001246088 pathogenic not provided 2017-03-01 criteria provided, single submitter clinical testing
RettBASE RCV000133193 SCV000188191 pathogenic Rett syndrome 2012-05-18 no assertion criteria provided curation
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV000133193 SCV001427577 likely pathogenic Rett syndrome 2019-01-01 no assertion criteria provided clinical testing

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