ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.1139dup (p.Tyr380Ter)

dbSNP: rs2087720794
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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 RCV001035380 SCV001198705 pathogenic Transcobalamin II deficiency 2019-01-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TCN2 are known to be pathogenic (PMID: 7980584, 20352340). This variant has been observed in an individual affected with transcobalamin II-deficiency (PMID: 20352340). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr380*) in the TCN2 gene. It is expected to result in an absent or disrupted protein product.

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