ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.564C>G (p.Pro188=)

dbSNP: rs61754420
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Total submissions: 6
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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 RCV001800455 SCV002047347 likely benign Rett syndrome 2021-10-28 reviewed by expert panel curation The c.528C>G (p.Pro176=) variant in MECP2 (NM_004992.3) is observed in at least 2 unaffected individuals (internal database - Invitae) (BS2). The silent p.Pro176= variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide (BP4, BP7). The p.Pro176= variant in MECP2 is present in gnomAD v2.1.1 at a frequency of 0.003275% (no criteria met). In summary, the p.Pro176= variant in MECP2 is classified as Likely Benign based on the ACMG/AMP criteria (BS2, BP4, BP7).
Eurofins Ntd Llc (ga) RCV000133152 SCV000202985 uncertain significance not provided 2013-12-23 criteria provided, single submitter clinical testing
Invitae RCV001520964 SCV001730190 benign Severe neonatal-onset encephalopathy with microcephaly 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345448 SCV002642062 likely benign Inborn genetic diseases 2018-09-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003945158 SCV004763023 likely benign MECP2-related condition 2023-01-11 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 RCV000133152 SCV000188144 not provided not provided no assertion provided not provided

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