ClinVar Miner

Submissions for variant NM_001190274.2(FBXO11):c.1352T>C (p.Ile451Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV003447831 SCV004175679 uncertain significance Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 2022-09-15 criteria provided, single submitter clinical testing The FBXO11 c.1352T>C variant is classified as a VUS (PM1, PM2, PP3) The FBXO11 c.1352T>C variant is a single nucleotide change in exon 11/23 of the FBXO11 gene, which is predicted to change the amino acid isoleucine at position 451 in the protein, to threonine. This variant is located in the conserved CASH domain where other previously reported deleterious missense variants are located (PM1). This variant is absent from population databases (PM2) and there is a low rate of benign missense variants in this region in gnomAD. Computational predictions support a deleterious effect on the gene or gene product (PP3). This variant has not been reported in dbSNP, ClinVar or HGMD.

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