ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.580+1G>C

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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 RCV003494766 SCV004298857 likely pathogenic Transcobalamin II deficiency 2023-05-13 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.008%). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Disruption of this splice site has been observed in individual(s) with transcobalamin deficiency (PMID: 20352340). This sequence change affects a donor splice site in intron 4 of the TCN2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TCN2 are known to be pathogenic (PMID: 7980584, 20352340).

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