ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.1576A>C (p.Ile526Leu)

gnomAD frequency: 0.00008  dbSNP: rs375091695
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002520397 SCV000760638 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001565842 SCV001789270 likely benign not provided 2018-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402073 SCV002709459 likely benign Cardiovascular phenotype 2022-11-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
CeGaT Center for Human Genetics Tuebingen RCV001565842 SCV004162093 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing TRDN: BP4

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