ClinVar Miner

Submissions for variant NM_003331.5(TYK2):c.1694G>A (p.Arg565Gln)

gnomAD frequency: 0.00001  dbSNP: rs764267766
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV000984873 SCV001073394 uncertain significance Immunodeficiency; Recurrent skin infections 2019-10-10 criteria provided, single submitter clinical testing The c.1694G>A variant is not present in publicly available databases like 1000 Genomes, Exome Variant Server (EVS), Exome Aggregation Consortium (ExAC) except Genome Aggregation Database (gnomAD) and dbSNP in heterozygous state at a very low minor allele frequency (<0.00001). However the variant is not present in our in-house exome database. The variant was also not reported to OMIM, ClinVar and Human Genome Mutation Database (HGMD) in any other affected individuals. In-silico pathogenicity prediction programs like SIFT, Polyphen2, Mutation Taster2, CADD etc. predicted this variant as likely disease causing. However there are no functional studies performed earlier. Due to lack of enough evidence and also considering the phenotype of the patient the variant has been classified as uncertain significance as per the ACMG guidelines. The variant was observed in this patient with an another heterozygous variant (c.648G>A) in TYK2 gene.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.