ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.997dup (p.Thr333fs)

dbSNP: rs2145548128
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002214253 SCV002496733 pathogenic not provided 2024-01-01 criteria provided, single submitter clinical testing TCN2: PVS1, PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV003598065 SCV004469267 pathogenic Transcobalamin II deficiency 2023-10-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr333Asnfs*6) 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. ClinVar contains an entry for this variant (Variation ID: 1675884). For these reasons, this variant has been classified as Pathogenic.

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