ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1030_1034del (p.Ser344fs)

dbSNP: rs267608558
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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 RCV000133309 SCV004232304 likely pathogenic Rett syndrome 2024-01-12 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 3.0, this variant is classified as likely pathogenic. At least the following criteria are met: This variant is absent from gnomAD (PM2_Supporting). Predicted to result in loss of function, and LOF is a known mechanism of disease (PVS1).
RettBASE RCV000133309 SCV000188318 pathogenic Rett syndrome 2006-02-03 no assertion criteria provided curation

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