ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1197_1436del (p.Pro400_Pro479del)

dbSNP: rs1557134946
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel RCV002472329 SCV002769697 uncertain significance Rett syndrome 2022-10-13 reviewed by expert panel curation The p.Pro400_Pro479del variant in MECP2 (NM_004992.3) causes an in-frame deletion of 80 amino acids, including a deletion of 62 amino acids in a non-repeat region of MECP2. This results in a deletion of greater than 10% of the total protein length (PM4_strong). The variant has been reported to segregate with mild non-syndromic intellectual disability in males in two informative meioses (PMID 11807877) (PP1). In summary, the p.Pro388_Pro467del variant in MECP2 is classified as a Variant of Uncertain Significance based on the ACMG/AMP criteria (PM4_strong, PP1).
Centre for Population Genomics, CPG RCV002472329 SCV004808988 uncertain significance Rett syndrome 2024-03-13 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 a variant of uncertain significance. At least the following criteria are met: Protein length changes due to in-frame deletions/insertions in a non-repeat region (PM4). Co-segregation with disease in multiple affected family members in at least 2 informative meiosis (PP1). PMID: 11807877 This variant is absent from gnomAD (PM2_Supporting).
OMIM RCV000170257 SCV000032838 pathogenic X-linked intellectual disability-psychosis-macroorchidism syndrome 2003-12-01 no assertion criteria provided literature only
RettBASE RCV000170257 SCV000222589 uncertain significance X-linked intellectual disability-psychosis-macroorchidism syndrome 2002-04-10 no assertion criteria provided curation

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