ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.8966A>G (p.Asn2989Ser)

dbSNP: rs2130875812
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001975874 SCV002253615 uncertain significance Long QT syndrome 2021-10-21 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 2989 of the AKAP9 protein (p.Asn2989Ser). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and serine. 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: "Benign"; Align-GVGD: "Class C0". The serine 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 variant is not present in population databases (ExAC no frequency).

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