ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.1292_1293del (p.Glu431fs)

dbSNP: rs1582923790
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000998677 SCV001154864 likely pathogenic not provided 2016-10-01 criteria provided, single submitter clinical testing
Invitae RCV003117675 SCV003785111 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2022-04-15 criteria provided, single submitter clinical testing 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.Glu431Glyfs*8) in the TRDN gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TRDN cause disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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