ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.788_792del (p.Asp263fs)

dbSNP: rs786205010
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Population Genomics, CPG RCV004558433 SCV005046877 pathogenic FOXG1 disorder 2024-05-27 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 pathogenic. At least the following criteria are met: Predicted to result in loss of function, and LOF is a known mechanism of disease (PVS1). This variant has been identified as a de novo occurrence in an individual with FOXG1 disorder without confirmation of paternity and maternity (PM6, PMID: 24412290). This variant is absent from gnomAD v4.1 (PM2_Supporting).
RettBASE RCV000170084 SCV000222399 pathogenic Rett syndrome, congenital variant 2014-03-18 no assertion criteria provided curation

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