ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.1235A>G (p.Tyr412Cys)

dbSNP: rs745363222
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768105 SCV000899020 uncertain significance Transcobalamin II deficiency 2021-03-30 criteria provided, single submitter clinical testing TCN2 NM_000355.3 exon 9 p.Tyr412Cys (c.1235A>G): This variant has not been reported in the literature but is present in 0.006% (2/30614) of South Asian alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/22-31022459-A-G). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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