ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.517G>T (p.Gly173Trp)

dbSNP: rs61748416
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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 RCV000133135 SCV004101570 likely pathogenic Rett syndrome 2023-10-10 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: Occurs in the well-characterized Methyl-DNA binding (MDB) functional domain of MECP2 (PM1). This variant has been identified as a de novo occurrence in an individual with Rett syndrome without confirmation of paternity and maternity (PM6, PMID: 11214906). This variant is absent from gnomAD v2 and v3 (PM2_Supporting). Computational prediction analysis tools suggests a deleterious impact (REVEL score >=0.75) (PP3).
RettBASE RCV000133135 SCV000188127 uncertain significance Rett syndrome 2002-02-15 no assertion criteria provided curation

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