ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.632C>A (p.Pro211His)

dbSNP: rs267608502
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Population Genomics, CPG RCV003483519 SCV004232227 benign Rett syndrome 2024-01-15 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 3.0, this variant is classified as benign. At least the following criteria are met: The allele frequency of this variant in at least one population in gnomAD is higher than the 0.03% threshold defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders VCEP 3.0 (BA1).
Labcorp Genetics (formerly Invitae), Labcorp RCV003638628 SCV004384086 benign Severe neonatal-onset encephalopathy with microcephaly 2023-06-23 criteria provided, single submitter clinical testing
RettBASE RCV000133170 SCV000188164 uncertain significance Schizophrenia 2011-03-29 no assertion criteria provided curation
PreventionGenetics, part of Exact Sciences RCV004734687 SCV005361181 likely benign MECP2-related disorder 2023-05-17 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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