ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.531del (p.Glu178fs)

dbSNP: rs1432170970
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002551565 SCV001589516 pathogenic Catecholaminergic polymorphic ventricular tachycardia 1 2022-07-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1075032). This variant has not been reported in the literature in individuals affected with TRDN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu178Lysfs*45) in the TRDN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TRDN are known to be pathogenic (PMID: 22422768, 25922419, 26200674).
Fulgent Genetics, Fulgent Genetics RCV002504650 SCV002814547 likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 5 2021-08-26 criteria provided, single submitter clinical testing

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