ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.927_930del (p.Cys309fs)

dbSNP: rs1157135425
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000000116 SCV003444341 pathogenic Transcobalamin II deficiency 2023-12-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys309Trpfs*50) in the TCN2 gene. 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). This variant is present in population databases (rs796064506, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with suspected primary immunodeficiency and/or transcobalamin II deficiency (PMID: 7849710, 32888943). ClinVar contains an entry for this variant (Variation ID: 96). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000000116 SCV000020259 pathogenic Transcobalamin II deficiency 2009-06-01 no assertion criteria provided literature only
Inserm U 954, Faculté de Médecine de Nancy RCV000000116 SCV000243914 not provided Transcobalamin II deficiency no assertion provided not provided

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