ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1199C>T (p.Pro400Leu)

gnomAD frequency: 0.00005  dbSNP: rs61753006
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Total submissions: 5
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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 RCV000132924 SCV002047341 benign Rett syndrome 2021-12-13 reviewed by expert panel curation The allele frequency of the p.Pro388Leu (NM_004992.3) variant in MECP2 is 0.014% in Latino sub population in gnomAD, which is high enough to be classified as likely benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). Thep.Pro388Leu variant is observed in at least 2 unaffected individuals (GeneDx internal database) (BS2). In summary, the p.Pro388Leu variant in MECP2 is classified as benign based on the ACMG/AMP criteria (BS1, BS2).
Invitae RCV001519066 SCV001727869 benign Severe neonatal-onset encephalopathy with microcephaly 2022-08-16 criteria provided, single submitter clinical testing
GeneDx RCV000693901 SCV001823493 likely benign not provided 2020-02-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 12872250, 17383248, 11960578)
Centre for Population Genomics, CPG RCV000132924 SCV004101625 benign Rett syndrome 2023-10-18 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 benign. At least the following criteria are met: The allele frequency of this variant in at least one population in gnomAD is between 0.008% and 0.03% (BS1). The variant has been reported by the ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel as observed in at least 2 individuals with no features of Rett Syndrome (BS2).
RettBASE RCV000132924 SCV000187905 uncertain significance Rett syndrome 2010-07-13 no assertion criteria provided curation

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