ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.10641C>A (p.Phe3547Leu) (rs528888059)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000198301 SCV000254911 uncertain significance Long QT syndrome 2015-06-01 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 3547 of the AKAP9 protein (p.Phe3547Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant has not been published in the literature and is present in population databases (no rsID, >0.03%). The individual from the population database was homozygous for this variant but the significance of this observation is uncertain. The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. In summary, this is a rare missense change that is not predicted to affect protein function or cause disease. However the evidence is insufficient at this time to prove that conclusively. It has been classified as a Variant of Uncertain Significance.

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