ClinVar Miner

Submissions for variant NM_001062.4(TCN1):c.497T>C (p.Val166Ala)

gnomAD frequency: 0.00002  dbSNP: rs200554043
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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 RCV001347132 SCV001541379 uncertain significance Transcobalamin I deficiency 2023-08-28 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1043075). This variant has not been reported in the literature in individuals affected with TCN1-related conditions. This variant is present in population databases (rs200554043, gnomAD 0.004%). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 166 of the TCN1 protein (p.Val166Ala).

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