ClinVar Miner

Submissions for variant NM_004992.3(MECP2):c.859G>C (p.Ala287Pro) (rs61750257)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000417939 SCV000525474 likely benign not specified 2016-03-03 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.
Invitae RCV000794396 SCV000933801 uncertain significance Severe neonatal-onset encephalopathy with microcephaly 2018-12-13 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 287 of the MECP2 protein (p.Ala287Pro). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and proline. This variant is present in population databases (rs61750257, ExAC 0.006%). This variant has been observed in in an individual with possible Rett syndrome (PMID: 11055898). ClinVar contains an entry for this variant (Variation ID: 143716). 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 RCV000133258 SCV000188264 uncertain significance Rett syndrome 2002-04-10 no assertion criteria provided curation

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