ClinVar Miner

Submissions for variant NM_001062.4(TCN1):c.322G>A (p.Ala108Thr)

gnomAD frequency: 0.00003  dbSNP: rs757531697
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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 RCV001888878 SCV002149537 uncertain significance Transcobalamin I deficiency 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 108 of the TCN1 protein (p.Ala108Thr). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1385555). This variant has not been reported in the literature in individuals affected with TCN1-related conditions. This variant is present in population databases (rs757531697, gnomAD 0.007%).

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