ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1251C>T (p.Pro417=)

gnomAD frequency: 0.00007  dbSNP: rs61753964
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704059 SCV000522610 likely benign not provided 2019-12-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000477111 SCV000556745 benign Severe neonatal-onset encephalopathy with microcephaly 2025-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354325 SCV002659886 benign Inborn genetic diseases 2017-06-27 criteria provided, single submitter clinical testing This alteration is classified as 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.
Centre for Population Genomics, CPG RCV003380463 SCV004098790 benign Rett syndrome 2023-08-14 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 2.0, 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 2.0 (BA1).
RettBASE RCV000132966 SCV000187950 benign not specified 2006-02-03 no assertion criteria provided curation

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