ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1490_1493del (p.Val497fs) (rs267608640)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001042819 SCV001206524 pathogenic Severe neonatal-onset encephalopathy with microcephaly 2019-04-15 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the MECP2 gene (p.Val485Alafs*26). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 2 amino acids of the MECP2 protein and extend the protein by an additional 24 amino acids. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with Rett syndrome (PMID: 11402105, 16473305), and it has been observed de novo in an individual with clinical features consistent with a MECP2-related condition (Invitae). ClinVar contains an entry for this variant (Variation ID: 143485). This variant results in an extension of the MECP2 protein. Other variant(s) that result in a similarly extended protein product (p.Ser486Ilefs*27) have been observed in individuals with MECP2-related conditions (PMID:20108430). This suggests that these extensions may be clinically significant. For these reasons, this variant has been classified as Pathogenic.
RettBASE RCV000168709 SCV000188003 uncertain significance Rett syndrome 2008-01-21 no assertion criteria provided curation

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