ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.1195C>G (p.Arg399Gly)

dbSNP: rs769817524
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Total submissions: 2
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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 RCV000768104 SCV000899019 uncertain significance Transcobalamin II deficiency 2021-03-30 criteria provided, single submitter clinical testing TCN2 NM_000355.3 exon 8 p.Arg399Gly (c.1195C>G): This variant has not been reported in the literature, and it is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant are insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae RCV000768104 SCV003033195 uncertain significance Transcobalamin II deficiency 2022-05-21 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 626029). This variant has not been reported in the literature in individuals affected with TCN2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 399 of the TCN2 protein (p.Arg399Gly).

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