ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.563C>G (p.Pro188Arg) (rs61749701)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000133151 SCV000526561 likely benign not specified 2016-03-31 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.
Integrated Genetics/Laboratory Corporation of America RCV000587767 SCV000698541 benign not provided 2016-08-19 criteria provided, single submitter clinical testing Variant summary: The MECP2 c.527C>G (p.Pro176Arg) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 7/87892 control chromosomes at a frequency of 0.0000796, which is approximately 10 times the estimated maximal expected allele frequency of a pathogenic MECP2 variant (0.0000083), suggesting this variant is likely a benign polymorphism. This variant has been reported in multiple patients, an unaffected relative and healthy individuals as a polymorphism. In addition, multiple reputable databases classified this variant as benign. Taken together, this variant is classified as benign.
RettBASE RCV000133151 SCV000188143 benign not specified 2010-03-10 no assertion criteria provided curation

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