ClinVar Miner

Submissions for variant NM_003331.5(TYK2):c.179T>C (p.Ile60Thr)

gnomAD frequency: 0.00001  dbSNP: rs752152984
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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 RCV001344387 SCV001538438 uncertain significance Immunodeficiency 35 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 60 of the TYK2 protein (p.Ile60Thr). This variant is present in population databases (rs752152984, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with TYK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1040701). 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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