ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.3448C>T (p.Leu1150Phe)

gnomAD frequency: 0.00001  dbSNP: rs750350575
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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 RCV001923357 SCV002184400 uncertain significance Long QT syndrome 2024-01-26 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1150 of the AKAP9 protein (p.Leu1150Phe). This variant is present in population databases (rs750350575, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with clinical features of long QT syndrome (PMID: 31418098). ClinVar contains an entry for this variant (Variation ID: 1412647). 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 disruptive. 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.
Fulgent Genetics, Fulgent Genetics RCV002490273 SCV002791187 uncertain significance Long QT syndrome 11 2021-10-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV003167153 SCV003912866 benign Cardiovascular phenotype 2022-11-04 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.
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University RCV003319230 SCV003932361 uncertain significance Primary dilated cardiomyopathy 2023-06-01 criteria provided, single submitter clinical testing

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