ClinVar Miner

Submissions for variant NM_182916.3(TRNT1):c.1205_1206dup (p.Glu403fs)

dbSNP: rs1449106096
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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 RCV001888277 SCV002142361 pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 2023-12-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu403Lysfs*27) in the TRNT1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 32 amino acid(s) of the TRNT1 protein. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with TRNT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1377011). This variant disrupts a region of the TRNT1 protein in which other variant(s) (p.Ser418Lysfs*9) have been determined to be pathogenic (PMID: 25193871, 26494905, 29358286). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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