ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.446A>G (p.Glu149Gly) (rs61748392)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001230698 SCV001403188 pathogenic Severe neonatal-onset encephalopathy with microcephaly 2019-11-06 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 137 of the MECP2 protein (p.Glu137Gly). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with X-linked recessive intellectual disability (PMID: 11309367). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 11825). This variant has been reported to affect MECP2 protein function (PMID: 12843318). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000012598 SCV000032833 pathogenic Mental retardation, X-linked, syndromic 13 2003-12-01 no assertion criteria provided literature only
RettBASE RCV000012598 SCV000188088 pathogenic Mental retardation, X-linked, syndromic 13 2002-04-10 no assertion criteria provided curation

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