ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1089C>G (p.Pro363=)

gnomAD frequency: 0.00001  dbSNP: rs782242577
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001459896 SCV001663752 likely benign Severe neonatal-onset encephalopathy with microcephaly 2023-10-13 criteria provided, single submitter clinical testing
GeneDx RCV001582667 SCV001813227 likely benign not provided 2019-07-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23591336)
Centre for Population Genomics, CPG RCV003380498 SCV004098763 likely benign Rett syndrome 2023-08-14 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 benign. At least the following criteria are met: Synonymous or intronic variant outside donor and acceptor splice regions where splicing prediction algorithms do not support significant splicing alteration (spliceAI score <=0.1) (BP4, BP7).
PreventionGenetics, part of Exact Sciences RCV003975241 SCV004798554 likely benign MECP2-related condition 2021-05-19 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
RettBASE RCV000170087 SCV000222403 benign not specified 2013-06-12 no assertion criteria provided curation

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