ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.1033C>T (p.Gln345Ter)

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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 RCV003843073 SCV004641408 pathogenic Transcobalamin II deficiency 2023-04-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This premature translational stop signal has been observed in individual(s) with TCN2-related conditions (PMID: 33023511). This variant is present in population databases (rs769078432, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Gln345*) in the TCN2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TCN2 are known to be pathogenic (PMID: 7980584, 20352340).

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