ClinVar Miner

Submissions for variant NM_024735.5(FBXO31):c.1000G>A (p.Asp334Asn)

dbSNP: rs2150668444
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV002468645 SCV002764695 pathogenic Intellectual disability, autosomal recessive 45 2020-11-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003312012 SCV004010518 likely pathogenic not provided 2023-06-01 criteria provided, single submitter clinical testing FBXO31: PS2, PM2, PS4:Moderate
Yale Center for Mendelian Genomics, Yale University RCV001849807 SCV002106912 uncertain significance Ectopic thyroid 2020-09-28 no assertion criteria provided literature only
Yale Center for Mendelian Genomics, Yale University RCV001849808 SCV002106977 likely pathogenic Spastic cerebral palsy 2021-04-08 no assertion criteria provided literature only
GenomeConnect - Brain Gene Registry RCV002468645 SCV004032186 not provided Intellectual disability, autosomal recessive 45 no assertion provided phenotyping only Variant reported in multiple GenomeConnect participants by Lab GeneDx. Variant interpreted as Uncertain significance and reported, most recently on 01-23-2023 and previously on 04-18-2022. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

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