ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.136_139del (p.Asp46fs) (rs61754428)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001219819 SCV001391777 pathogenic Severe neonatal-onset encephalopathy with microcephaly 2019-04-24 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the MECP2 gene (p.Asp34Argfs*90). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 453 amino acids of the MECP2 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Rett syndrome (PMID: 11524741). It is also known as 100del4 in the literature. ClinVar contains an entry for this variant (Variation ID: 143304). This variant disrupts the C-terminus of the MECP2 protein. Other variant(s) that disrupt this region (p.Arg255*) have been determined to be pathogenic (PMID: 23270700, 1241840, 17089071, 10508514). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
RettBASE RCV000132828 SCV000187805 pathogenic Rett syndrome 2002-09-05 no assertion criteria provided curation

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