ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.1284G>A (p.Ter428=)

dbSNP: rs2145563752
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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 RCV002046443 SCV002315352 uncertain significance Transcobalamin II deficiency 2021-07-30 criteria provided, single submitter clinical testing This sequence change affects the stop codon of the TCN2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TCN2 protein In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with TCN2-related conditions. This variant is not present in population databases (ExAC no frequency).

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