ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.9117T>G (p.Ser3039Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept of Medical Biology, Uskudar University RCV003318445 SCV004022021 uncertain significance Long QT syndrome 2024-01-08 criteria provided, single submitter research Criteria: PM2, BP4
Ambry Genetics RCV004333280 SCV005023953 uncertain significance Cardiovascular phenotype 2023-11-01 criteria provided, single submitter clinical testing The p.S3039R variant (also known as c.9117T>G), located in coding exon 37 of the AKAP9 gene, results from a T to G substitution at nucleotide position 9117. The serine at codon 3039 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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