ClinVar Miner

Submissions for variant NM_000890.5(KCNJ5):c.645G>A (p.Leu215=)

gnomAD frequency: 0.00021  dbSNP: rs147245544
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000631797 SCV000752889 likely benign Long QT syndrome 2023-02-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360510 SCV002657488 likely benign Cardiovascular phenotype 2019-02-19 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 RCV002499042 SCV002809330 likely benign Long QT syndrome 13; Familial hyperaldosteronism type III 2022-04-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705730 SCV005211314 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003935757 SCV004748066 likely benign KCNJ5-related disorder 2019-06-20 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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