ClinVar Miner

Submissions for variant NM_001378974.1(FBXW11):c.1150C>T (p.Arg384Trp)

dbSNP: rs1758081729
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV001175172 SCV001571396 likely pathogenic Neurodevelopmental, jaw, eye, and digital syndrome 2021-04-13 criteria provided, single submitter curation This variant is interpreted as likely pathogenic for Neurodevelopmental, jaw, eye, and digital syndrome, autosomal dominant. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); De novo (paternity and maternity confirmed) (PS2 downgraded to moderate); Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3); Missense variant in a gene that has a low rate of benign missense variation and in which missense variants are a common mechanism of disease (PP2).
Clinical Genomics Laboratory, Washington University in St. Louis RCV001175172 SCV004176994 uncertain significance Neurodevelopmental, jaw, eye, and digital syndrome 2023-09-02 criteria provided, single submitter clinical testing The FBXW11 c.1150C>T (p.Arg384Trp) variant has been reported in the medical literature in a de novo state in an individual with striking eye anomalies, digital anomalies, and psychiatric issues (Holt RJ et al., PMID: 31402090). This variant is absent from the general population (gnomAD v.2.1.1), indicating it is not a common variant. Computational predictors are uncertain/conflicting as to the impact of this variant on FBXW11 protein function. This variant has been submitted to ClinVar as likely pathogenic by one laboratory (variation ID: 917896). Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.
OMIM RCV001175172 SCV001338771 pathogenic Neurodevelopmental, jaw, eye, and digital syndrome 2020-06-16 no assertion criteria provided literature only

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