ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.785G>A (p.Arg262His) (rs61750227)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000721068 SCV000851953 uncertain significance History of neurodevelopmental disorder 2013-04-30 criteria provided, single submitter clinical testing Insufficient or conflicting evidence;In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Invitae RCV001231150 SCV001403659 uncertain significance Severe neonatal-onset encephalopathy with microcephaly 2019-11-12 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 250 of the MECP2 protein (p.Arg250His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MECP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 143679). 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 RCV000133221 SCV000188220 benign not specified 2004-06-17 no assertion criteria provided curation

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