ClinVar Miner

Submissions for variant NM_001190274.2(FBXO11):c.792_801+5delinsT

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center RCV004785160 SCV005397723 likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 2024-06-28 criteria provided, single submitter clinical testing This sequence variant is deletion of 15 nucleotides and insertion of 1 nucleotide beginning at coding position 792 in the FBXO11 gene; this results in removing the entire exon 6 canonical splice donor site. This variant is predicted to generate a non-functional allele through either the expression of a truncated protein or a loss of F-box protein 11 expression due to nonsense-mediated decay. This novel de novo variant is absent from ClinVar, publications, and the gnomAD v4.1.0 population database (0/~1609000 alleles). Studies examining the functional consequence of this variant have not been performed, to our knowledge. Haploinsufficiency in FBXO11 is a known mechanism of disease (PMID: 29796876, 30057029). Based upon the evidence, we consider this variant to be likely pathogenic. ACMG Criteria: PM2, PS2, PVS1

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