ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.491C>T (p.Pro164Leu)

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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 RCV003991418 SCV004808960 likely pathogenic Rett syndrome 2024-01-19 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: Occurs in the well-characterized Methyl-DNA binding (MDB) functional domain of MECP2 (PM1). Another missense variant in the same codon has been classified as pathogenic for Rett syndrome by the ClinGen Rett and Angelman-like Disorders Expert Panel (PM5, ClinVar ID 143579). Computational prediction analysis tools suggests a deleterious impact (REVEL score > 0.75) (PP3). This variant is absent from gnomAD (PM2_Supporting).
GeneDx RCV004719405 SCV005326277 pathogenic not provided 2024-01-29 criteria provided, single submitter clinical testing Published functional studies demonstrate that this variant damages the normal protein function (PMID: 28785396); Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28785396, 12843318, 21831886)

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