ClinVar Miner

Submissions for variant NM_001062.4(TCN1):c.69C>A (p.Cys23Ter)

dbSNP: rs749820775
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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 RCV001949689 SCV002241481 pathogenic Transcobalamin I deficiency 2023-11-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys23*) in the TCN1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TCN1 are known to be pathogenic (PMID: 19686235). This variant is present in population databases (rs749820775, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with TCN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1459208). For these reasons, this variant has been classified as Pathogenic.

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