ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.358_359del (p.Arg120fs)

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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 RCV002611505 SCV003504764 pathogenic Transcobalamin II deficiency 2023-10-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg120Glyfs*18) 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 present in population databases (no rsID available, gnomAD 0.0009%). 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: 2187312). For these reasons, this variant has been classified as Pathogenic.

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