ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.391C>T (p.Leu131Phe)

gnomAD frequency: 0.00006  dbSNP: rs747887520
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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 RCV001361824 SCV001557814 uncertain significance Transcobalamin II deficiency 2022-01-07 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 131 of the TCN2 protein (p.Leu131Phe). This variant is present in population databases (rs747887520, gnomAD 0.05%). 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: 1053472). 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 C15"). 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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