ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.1538A>G (p.Lys513Arg)

gnomAD frequency: 0.00004  dbSNP: rs786205713
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170632 SCV000223184 likely benign not specified 2012-01-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002515223 SCV003443922 uncertain significance Long QT syndrome 2022-10-01 criteria provided, single submitter clinical testing 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 arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 190505). This variant has not been reported in the literature in individuals affected with AKAP9-related conditions. This variant is present in population databases (rs786205713, gnomAD 0.006%). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 513 of the AKAP9 protein (p.Lys513Arg).
Ambry Genetics RCV003162727 SCV003864464 uncertain significance Cardiovascular phenotype 2023-09-20 criteria provided, single submitter clinical testing The c.1538A>G (p.K513R) alteration is located in exon 8 (coding exon 8) of the AKAP9 gene. This alteration results from a A to G substitution at nucleotide position 1538, causing the lysine (K) at amino acid position 513 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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