ClinVar Miner

Submissions for variant NM_182916.3(TRNT1):c.73C>T (p.Gln25Ter)

dbSNP: rs1415152805
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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 RCV001380482 SCV001578564 pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 2020-08-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TRNT1 are known to be pathogenic (PMID: 25193871). This variant has not been reported in the literature in individuals with TRNT1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln25*) in the TRNT1 gene. It is expected to result in an absent or disrupted protein product.

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