ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1314C>T (p.Ser438=)

gnomAD frequency: 0.00003  dbSNP: rs267608619
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000132981 SCV000719703 likely benign not specified 2017-06-05 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 RCV002514763 SCV003476656 likely benign Severe neonatal-onset encephalopathy with microcephaly 2024-01-11 criteria provided, single submitter clinical testing
Centre for Population Genomics, CPG RCV003380466 SCV004098744 likely 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 likely benign. At least the following criteria are met: The allele frequency of this variant in at least one population in gnomAD is between 0.008% and 0.03% (BS1). Splicing prediction algorithms do not support significant splicing alteration (spliceAI score <=0.1) (BP4). Synonymous or intronic variant outside donor and acceptor splice regions where splicing prediction algorithms do not support significant splicing alteration (spliceAI score <=0.1) (BP4, BP7).
RettBASE RCV000132981 SCV000187965 benign not specified 2010-05-14 no assertion criteria provided curation

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