ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1198C>G (p.Pro400Ala)

dbSNP: rs61753000
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719913 SCV000190995 likely benign not provided 2020-10-28 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, Children's Mercy Hospital and Clinics RCV000172866 SCV000223853 benign Rett syndrome criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000524942 SCV000645655 benign Severe neonatal-onset encephalopathy with microcephaly 2023-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354331 SCV002620890 likely benign Inborn genetic diseases 2020-03-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 RCV004532630 SCV004735088 likely benign MECP2-related disorder 2022-09-16 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).

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