ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.621C>T (p.Gly207=)

gnomAD frequency: 0.00017  dbSNP: rs61749712
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000133166 SCV000513560 benign not specified 2015-05-06 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.
Invitae RCV000558061 SCV000645669 benign Severe neonatal-onset encephalopathy with microcephaly 2023-12-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354327 SCV002650273 benign Inborn genetic diseases 2018-08-03 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV003975139 SCV004792952 likely benign MECP2-related condition 2022-02-10 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 RCV000133166 SCV000188159 benign not specified 2006-02-03 no assertion criteria provided curation
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001729406 SCV001978015 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729406 SCV001980574 likely benign not provided no assertion criteria provided clinical testing

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