ClinVar Miner

Submissions for variant NC_000022.10:g.(?_31003319)_(31003402_?)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 RCV004582645 SCV005063262 pathogenic Transcobalamin II deficiency 2023-01-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TCN2-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 1 of the TCN2 gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TCN2 are known to be pathogenic (PMID: 7980584, 20352340). For these reasons, this variant has been classified as Pathogenic.

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