ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.506dup (p.Thr170fs)

dbSNP: rs267608482
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Population Genomics, CPG RCV000133126 SCV004101614 likely pathogenic Rett syndrome 2023-10-13 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 RCV000133126 SCV000188118 pathogenic Rett syndrome 2004-06-17 no assertion criteria provided curation

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