ClinVar Miner

Submissions for variant NM_003331.5(TYK2):c.583G>A (p.Ala195Thr)

dbSNP: rs201107041
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788828 SCV000928084 uncertain significance not provided 2018-11-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001856229 SCV002308808 uncertain significance Immunodeficiency 35 2022-07-23 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 636873). This variant has not been reported in the literature in individuals affected with TYK2-related conditions. This variant is present in population databases (rs201107041, gnomAD 0.03%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 195 of the TYK2 protein (p.Ala195Thr). 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: "Probably Damaging"; 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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