ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.10865G>A (p.Trp3622Ter) (rs1563145763)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneID Lab - Advanced Molecular Diagnostics RCV000680439 SCV000807811 likely pathogenic Long QT syndrome 2018-03-10 criteria provided, single submitter clinical testing This variant produces a premature stop signal at position 3622 of the AKAP9 protein, written as p.Trp3622Ter or p.W3622*. The substitution is predicted to result in a non-functional AKAP9 protein, either through protein truncation or nonsense-mediated mRNA decay. This mutation is considered a non-tolerated amino acid change based on in silico prediction algorithms (disease causing), and it has not been reported in the ClinVar Database (NCBI National Library of Medicine, NIH, Bethesda MD), or in population databases such as ExAC or 1000 genomes. Based on these findings and the limited literature regarding this substitution we consider it a likely pathogenic variant.

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