ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.878T>C (p.Phe293Ser) (rs1057516044)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute RCV000408624 SCV000484441 likely pathogenic Hypertrichotic osteochondrodysplasia 2015-06-03 criteria provided, single submitter clinical testing This change results in a substitution of a phenylalanine for a serine at amino acid position 293, NP_005682.2(ABCC9): p.(Phe293Ser). The phenylalanine is predicted to be situated just prior to the first transmembrane domain of the ABCC9 protein. The amino acid residue is highly conserved and in-silico software predicts the variant to be pathogenic. This is a novel variant, not present in population or disease databses. It was found to have occurred de novo in a child with phenotypic features of Cantu syndrome.

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