ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.618del (p.Ala208fs)

dbSNP: rs1060502114
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002526417 SCV000548538 pathogenic Catecholaminergic polymorphic ventricular tachycardia 1 2016-09-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in TRDN are known to be pathogenic (PMID: 25922419). This sequence change deletes 1 nucleotide from exon 8 of the TRDN mRNA (c.618delG), causing a frameshift at codon 208. This creates a premature translational stop signal (p.Ala208Leufs*15) and is expected to result in an absent or disrupted protein product.

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