ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1193_1222delinsA (p.Leu398fs)

dbSNP: rs2065917262
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001250738 SCV001426147 likely pathogenic Rett syndrome 2018-08-28 criteria provided, single submitter clinical testing
Centre for Population Genomics, CPG RCV001250738 SCV005687570 likely pathogenic Rett syndrome 2024-12-02 criteria provided, single submitter curation 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. 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).

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