ClinVar Miner

Submissions for variant NM_003331.5(TYK2):c.3325C>T (p.Leu1109Phe)

dbSNP: rs2145127143
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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 RCV002021353 SCV002315471 uncertain significance Immunodeficiency 35 2021-04-10 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with phenylalanine at codon 1109 of the TYK2 protein (p.Leu1109Phe). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant has not been reported in the literature in individuals with TYK2-related conditions. 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). 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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