ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.1106+1G>A

gnomAD frequency: 0.00001  dbSNP: rs766478911
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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 RCV001863330 SCV002117225 pathogenic Transcobalamin II deficiency 2021-05-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Studies have shown that this variant results in skipping of exon 7, which introduces a new termination codon (PMID: 20607612). The resulting mRNA is expected to undergo nonsense-mediated decay. This variant has been observed in individual(s) with transcobalamin II deficiency (PMID: 20607612). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs766478911, ExAC 0.006%). This sequence change affects a donor splice site in intron 7 of the TCN2 gene. RNA analysis indicates that this variant induces altered splicing and likely disrupts the C-terminus of the protein.

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