ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.46_47delinsTT (p.Ala16Phe)

dbSNP: rs2145529052
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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 RCV001942837 SCV002129945 uncertain significance Transcobalamin II deficiency 2022-06-20 criteria provided, single submitter clinical testing This sequence change replaces alanine with phenylalanine at codon 16 of the TCN2 protein (p.Ala16Phe). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and phenylalanine. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with TCN2-related conditions. 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: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). 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.

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