ClinVar Miner

Submissions for variant NM_003331.5(TYK2):c.1913G>A (p.Arg638Gln)

gnomAD frequency: 0.00001  dbSNP: rs780399902
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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 RCV000810976 SCV000951218 uncertain significance Immunodeficiency 35 2018-08-08 criteria provided, single submitter clinical testing This variant is present in population databases (rs780399902, ExAC 0.02%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35"). This variant has not been reported in the literature in individuals with TYK2-related disease. This sequence change replaces arginine with glutamine at codon 638 of the TYK2 protein (p.Arg638Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine.

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