ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.347G>A (p.Trp116Ter)

dbSNP: rs61754455
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001849958 SCV002229334 pathogenic Severe neonatal-onset encephalopathy with microcephaly 2021-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp104*) in the MECP2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MECP2 are known to be pathogenic (PMID: 12180070). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MECP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 143530). For these reasons, this variant has been classified as Pathogenic.
Centre for Population Genomics, CPG RCV000133062 SCV004101611 likely pathogenic Rett syndrome 2023-10-12 criteria provided, single submitter curation This variant has been collected from RettBASE and curated to current modified ACMG/AMP criteria. Based on the classification scheme defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders Specifications to the ACMG/AMP Variant Interpretation Guidelines VCEP 2.0, this variant is classified as likely pathogenic. At least the following criteria are met: Predicted to result in loss of function, and LOF is a known mechanism of disease (PVS1). This variant is absent from gnomAD (PM2_Supporting).
RettBASE RCV000133062 SCV000188050 pathogenic Rett syndrome 2006-02-03 no assertion criteria provided curation

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