ClinVar Miner

Submissions for variant NM_001062.4(TCN1):c.556+5G>A

gnomAD frequency: 0.00002  dbSNP: rs755195459
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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 RCV001318178 SCV001508870 uncertain significance Transcobalamin I deficiency 2020-03-19 criteria provided, single submitter clinical testing This variant is present in population databases (rs755195459, ExAC 0.03%). This sequence change falls in intron 4 of the TCN1 gene. It does not directly change the encoded amino acid sequence of the TCN1 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant has not been reported in the literature in individuals with TCN1-related conditions. 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. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies.

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