ClinVar Miner

Submissions for variant NM_001378974.1(FBXW11):c.1154C>A (p.Ala385Asp)

dbSNP: rs1758081491
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV001175173 SCV001571398 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); Assumed de novo, but no confirmation of paternity and maternity (PM6); 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).
OMIM RCV001175173 SCV001338772 pathogenic Neurodevelopmental, jaw, eye, and digital syndrome 2020-06-16 no assertion criteria provided literature only

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