ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.7314A>T (p.Glu2438Asp)

gnomAD frequency: 0.00006  dbSNP: rs138468216
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000157103 SCV001414155 uncertain significance Long QT syndrome 2023-12-13 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 2438 of the AKAP9 protein (p.Glu2438Asp). This variant is present in population databases (rs138468216, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with AKAP9-related conditions. ClinVar contains an entry for this variant (Variation ID: 180264). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
GeneDx RCV001565846 SCV001789274 likely benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381505 SCV002674371 benign Cardiovascular phenotype 2024-04-02 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Blueprint Genetics RCV000157103 SCV000206826 uncertain significance Long QT syndrome 2014-11-27 no assertion criteria provided clinical testing

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