ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.750G>A (p.Gly250=)

gnomAD frequency: 0.00004  dbSNP: rs369813305
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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 RCV003235115 SCV003934949 likely benign Rett syndrome 2023-06-15 reviewed by expert panel curation The allele frequency of the c.714G>A p.Gly238= variant in MECP2 is 0.008% in the African/African American sub population in gnomAD, which is high enough to meet the BS1 criteria based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). The silent p.Gly238= variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide (BP4, BP7). In summary, the c.714G>A p.Gly238= variant in MECP2 is classified as Likely Benign based on the ACMG/AMP criteria (BS1, BP4, BP7).
Genetic Services Laboratory, University of Chicago RCV000192514 SCV000247989 uncertain significance not specified 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000192514 SCV000513563 benign not specified 2015-03-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001515210 SCV001723230 benign Severe neonatal-onset encephalopathy with microcephaly 2024-01-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004734849 SCV005346282 likely benign MECP2-related disorder 2022-02-08 no assertion criteria provided 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).

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