ClinVar Miner

Submissions for variant NM_001062.4(TCN1):c.214A>T (p.Met72Leu)

gnomAD frequency: 0.00001  dbSNP: rs372414904
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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 RCV002036688 SCV002317757 uncertain significance Transcobalamin I deficiency 2022-08-09 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1525440). This variant has not been reported in the literature in individuals affected with TCN1-related conditions. This variant is present in population databases (rs372414904, gnomAD 0.04%). This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 72 of the TCN1 protein (p.Met72Leu).

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