ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.988A>G (p.Ile330Val)

dbSNP: rs1169605273
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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 RCV001040099 SCV001203655 uncertain significance Transcobalamin II deficiency 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 330 of the TCN2 protein (p.Ile330Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is not present in population databases (ExAC no frequency). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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