ClinVar Miner

Submissions for variant NM_003331.5(TYK2):c.1887T>A (p.Pro629=)

gnomAD frequency: 0.00001  dbSNP: rs773984009
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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 RCV002051049 SCV002109144 uncertain significance Immunodeficiency 35 2021-07-14 criteria provided, single submitter clinical testing This variant is present in population databases (rs773984009, ExAC 0.02%). This variant has not been reported in the literature in individuals with TYK2-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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. This sequence change affects codon 629 of the TYK2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TYK2 protein.

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