ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.109A>G (p.Lys37Glu)

gnomAD frequency: 0.00006  dbSNP: rs752156538
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170644 SCV000223196 uncertain significance not provided 2023-11-09 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Ambry Genetics RCV002453573 SCV002736066 uncertain significance Cardiovascular phenotype 2023-08-03 criteria provided, single submitter clinical testing The p.K37E variant (also known as c.109A>G), located in coding exon 2 of the AKAP9 gene, results from an A to G substitution at nucleotide position 109. The lysine at codon 37 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002516545 SCV003261246 uncertain significance Long QT syndrome 2022-01-16 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 190516). This variant has not been reported in the literature in individuals affected with AKAP9-related conditions. This variant is present in population databases (rs752156538, gnomAD 0.01%). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 37 of the AKAP9 protein (p.Lys37Glu).

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