ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.610A>T (p.Lys204Ter)

dbSNP: rs193922679
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030165 SCV000052823 likely pathogenic Rett syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Centre for Population Genomics, CPG RCV000030165 SCV004232244 pathogenic Rett syndrome 2024-01-16 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 pathogenic. At least the following criteria are met: Predicted to result in loss of function, and LOF is a known mechanism of disease (PVS1). Has been observed in at least 2 individuals with phenotypes consistent with MECP2-related disease (PS4_Supporting). PMID: 22277191, 32472557 This variant is absent from gnomAD (PM2_Supporting).
RettBASE RCV000030165 SCV000222537 pathogenic Rett syndrome 2012-09-27 no assertion criteria provided curation

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