ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.8283C>T (p.Ser2761=)

gnomAD frequency: 0.00005  dbSNP: rs1318456659
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001930269 SCV002183134 uncertain significance Long QT syndrome 2021-06-23 criteria provided, single submitter clinical testing This sequence change affects codon 2761 of the AKAP9 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the AKAP9 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with AKAP9-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Ambry Genetics RCV002425234 SCV002681463 likely benign Cardiovascular phenotype 2020-03-13 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Fulgent Genetics, Fulgent Genetics RCV002484447 SCV002776149 uncertain significance Long QT syndrome 11 2021-12-30 criteria provided, single submitter clinical testing

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