ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.494_495del (p.Cys165fs)

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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 RCV003496074 SCV004253057 pathogenic Transcobalamin II deficiency 2023-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys165Serfs*8) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TCN2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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