ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.9814G>A (p.Glu3272Lys)

gnomAD frequency: 0.00001  dbSNP: rs771303714
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001947955 SCV002197415 uncertain significance Long QT syndrome 2022-02-08 criteria provided, single submitter clinical testing This variant is present in population databases (rs771303714, gnomAD 0.008%). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with AKAP9-related conditions. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 3272 of the AKAP9 protein (p.Glu3272Lys).
Fulgent Genetics, Fulgent Genetics RCV002503598 SCV002775710 uncertain significance Long QT syndrome 11 2021-10-01 criteria provided, single submitter clinical testing

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