ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.5153C>A (p.Ser1718Tyr) (rs1584285416)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001990 SCV001159803 uncertain significance Long QT syndrome 11 2018-07-24 criteria provided, single submitter clinical testing The AKAP9 c.5153C>A; p.Ser1718Tyr variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The serine at codon 1718 is moderately conserved and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Ser1718Tyr variant is uncertain at this time.

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