ClinVar Miner

Submissions for variant NM_001062.4(TCN1):c.26del (p.Leu9fs)

gnomAD frequency: 0.00001  dbSNP: rs1209702636
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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 RCV000688950 SCV000816582 pathogenic Transcobalamin I deficiency 2022-06-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 568555). This variant has not been reported in the literature in individuals affected with TCN1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Leu9Glnfs*20) 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).

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