ClinVar Miner

Submissions for variant NM_004992.3(MECP2):c.1433G>A (p.Arg478Gln) (rs145790362)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000766080 SCV000897555 uncertain significance Severe neonatal-onset encephalopathy with microcephaly; MECP2 duplication syndrome; Mental retardation, X-linked, syndromic 13; Rett syndrome; Autism, susceptibility to, X-linked 3 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000767162 SCV000191002 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing The Arg478Gln missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The amino acid substitution is non-conservative, as a positively charged Arginine residue is replaced by an uncharged Glutamine residue, and it alters a highly conserved position in the C-terminal domain of the MECP2 protein. However, missense substitutions at nearby codons are classified as benign variants, suggesting that this region of the protein is tolerant of missense changes. Several in silico algorithms predict that Arg478Gln is likely benign, although another model suggests it may be damaging to protein structure/function. Therefore, based on the available information it is currently unclear whether Arg478Gln is a disease-causing mutation or a rare benign variant. The variant is found in CHILD-EPI panel(s).
RettBASE RCV000170088 SCV000222404 benign not specified 2013-12-05 no assertion criteria provided curation

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