ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.6996A>G (p.Glu2332=)

gnomAD frequency: 0.00001  dbSNP: rs1315064294
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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 RCV001078750 SCV000752850 likely benign Long QT syndrome 2022-12-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755801 SCV000883380 likely benign not provided 2018-06-04 criteria provided, single submitter clinical testing The p.Glu2332Glu variant does not alter the amino acid sequence of the AKAP9 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with long QT syndrome in medical literature or in gene specific variation databases. It is absent from general population databases such as 1000 Genomes, NHLBI GO Exome Sequencing Project (ESP), and the Genome Aggregation Database (gnomAD). Based on these observations, the p.Glu2332Glu variant is likely to be benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002307565 SCV002600829 likely benign not specified 2022-10-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360508 SCV002665175 likely benign Cardiovascular phenotype 2022-05-17 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.

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