ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.568dup (p.Ile190fs)

dbSNP: rs1085307100
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490366 SCV000267536 likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 5 2016-03-18 criteria provided, single submitter reference population
Labcorp Genetics (formerly Invitae), Labcorp RCV002515600 SCV000760640 pathogenic Catecholaminergic polymorphic ventricular tachycardia 1 2020-12-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TRDN are known to be pathogenic (PMID: 25922419). This variant has not been reported in the literature in individuals with TRDN-related disease. ClinVar contains an entry for this variant (Variation ID: 225497). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile190Asnfs*2) in the TRDN gene. It is expected to result in an absent or disrupted protein product.
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000786234 SCV000924975 likely pathogenic not provided 2018-02-02 no assertion criteria provided provider interpretation Variant TRDN, Exon 7, p.Ile190Asnfs*2 (c.568dupA) NM_001251987.1 chr6-123833490--T SCICD classification Likely pathogenic (for recessive disease) We do feel it is suitable for assessing risk in healthy relatives ("predictive genetic testing"). The rationale for this assessment is: type of variant in this gene likely to be pathogenic, sufficiently rare. Gene-level evidence TRDN variants are newly recognized as a cause of autosomal recessive arrhythmic syndromes resembling CPVT and long QT syndrome. Several of the reported pathogenic variants are nonsense, frameshift, or splice. As far as we are aware phenotype in heterozygotes has not been reported. Case data summary Per lab report and my searches, variant has not been reported with disease. Population Data There is no variation at this genomic position in gnomAD. Metrics indicate adequate coverage.

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