ClinVar Miner

Submissions for variant NM_002234.4(KCNA5):c.919C>T (p.Pro307Ser)

gnomAD frequency: 0.00241  dbSNP: rs17215409
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171656 SCV000050685 uncertain significance altered potassium channel function 2013-06-24 criteria provided, single submitter research
Invitae RCV000549885 SCV000647005 likely benign Atrial fibrillation, familial, 7 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001589050 SCV001825802 likely benign not provided 2020-12-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16411137, 24068186, 22402074, 21507821, 18209767, 15735608)
CeGaT Center for Human Genetics Tuebingen RCV001589050 SCV004132400 benign not provided 2022-10-01 criteria provided, single submitter clinical testing KCNA5: BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000549885 SCV004564117 likely benign Atrial fibrillation, familial, 7 2023-10-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003907539 SCV004722424 likely benign KCNA5-related condition 2019-07-16 criteria provided, single submitter 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).
Clinical Genetics, Academic Medical Center RCV001699140 SCV001923734 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001589050 SCV001954525 likely benign not provided no assertion criteria provided clinical testing
John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine RCV002285149 SCV002575038 likely benign Pulmonary arterial hypertension 2022-09-26 no assertion criteria provided clinical testing

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