ClinVar Miner

Submissions for variant NC_000022.10:g.(?_31010316)_(31013502_?)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 RCV004583670 SCV005063295 pathogenic Transcobalamin II deficiency 2024-01-09 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 4-7 of the TCN2 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in TCN2 are known to be pathogenic (PMID: 7980584, 20352340). This variant has not been reported in the literature in individuals affected with TCN2-related conditions. This variant is also known as c.429_1106+1del (p.His144_Thr369del). For these reasons, this variant has been classified as Pathogenic.

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