ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.1203C>T (p.Val401=)

gnomAD frequency: 0.00003  dbSNP: rs748951815
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000845471 SCV000987562 likely benign not provided criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087465 SCV001008070 likely benign Long QT syndrome 2023-04-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345930 SCV002648711 likely benign Cardiovascular phenotype 2020-09-29 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.
PreventionGenetics, part of Exact Sciences RCV003892774 SCV004715810 likely benign AKAP9-related disorder 2021-10-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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