ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.1053A>G (p.Lys351=)

gnomAD frequency: 0.00263  dbSNP: rs368967178
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621539 SCV000736003 likely benign Cardiovascular phenotype 2015-11-17 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000631742 SCV000752831 benign Long QT syndrome 2025-01-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001201295 SCV001372425 benign not specified 2020-06-13 criteria provided, single submitter clinical testing
GeneDx RCV001563480 SCV001786431 likely benign not provided 2019-11-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253534 SCV002524814 benign Long QT syndrome 11 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001563480 SCV005220971 likely benign not provided criteria provided, single submitter not provided

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