ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.1806del (p.Gly603fs)

dbSNP: rs1381728472
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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 RCV002529891 SCV000760585 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2022-12-06 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 532317). 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.Gly603Glufs*26) in the TRDN gene. However, it is currently unclear if variants that occur in this region of the gene cause disease.
Revvity Omics, Revvity RCV003488750 SCV004238769 likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 5 2023-02-03 criteria provided, single submitter clinical testing

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