ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.86_87del (p.His29fs)

dbSNP: rs2087528394
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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 RCV001041864 SCV001205511 pathogenic Transcobalamin II deficiency 2020-01-13 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 not been reported in the literature in individuals with TCN2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.His29Profs*64) in the TCN2 gene. It is expected to result in an absent or disrupted protein product.

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