ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.49C>G (p.Leu17Val)

gnomAD frequency: 0.00004  dbSNP: rs759462885
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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 RCV001921757 SCV002205414 uncertain significance Transcobalamin II deficiency 2022-09-19 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 17 of the TCN2 protein (p.Leu17Val). This variant is present in population databases (rs759462885, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with TCN2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1424570). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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