ClinVar Miner

Submissions for variant NC_000022.10:g.(?_31018935)_(31019090_?)del

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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 RCV004583648 SCV005063273 pathogenic Transcobalamin II deficiency 2023-05-01 criteria provided, single submitter clinical testing A similar copy number variant has been observed in individual(s) with transcobalamin II deficiency (PMID: 20607612, 25914105, 34440436). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the TCN2 protein in which other variant(s) (p.Arg399*) have been determined to be pathogenic (PMID: 18956254, 31666257; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant is a gross deletion of the genomic region encompassing exon(s) 8 of the TCN2 gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to disrupt the C-terminus of the protein.

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