ClinVar Miner

Submissions for variant NM_004992.3(MECP2):c.452A>G (p.Asp151Gly) (rs61748403)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000133114 SCV000595748 likely pathogenic Rett syndrome 2016-03-10 criteria provided, single submitter clinical testing
Invitae RCV000801156 SCV000940922 uncertain significance Severe neonatal-onset encephalopathy with microcephaly 2018-09-28 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 151 of the MECP2 protein (p.Asp151Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals who were tested for Rett syndrome or had a diagnosis of atypical Rett syndrome (PMID: 12180070, 15173251). ClinVar contains an entry for this variant (Variation ID: 143578). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
RettBASE RCV000133114 SCV000188105 uncertain significance Rett syndrome 2008-01-21 no assertion criteria provided curation

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