ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.728C>T (p.Thr243Ile)

gnomAD frequency: 0.00007  dbSNP: rs769684583
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000841431 SCV000983398 likely benign not provided 2018-04-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002536135 SCV001009964 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2025-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381898 SCV002672914 likely benign Cardiovascular phenotype 2023-03-03 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.
Breakthrough Genomics, Breakthrough Genomics RCV000841431 SCV005225227 likely benign not provided criteria provided, single submitter not provided

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