ClinVar Miner

Submissions for variant NM_001289104.2(PRKCSH):c.-77-2A>C

gnomAD frequency: 0.00010  dbSNP: rs201157643
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000778540 SCV000914829 uncertain significance Polycystic liver disease 1 2017-10-18 criteria provided, single submitter clinical testing The PRKCSH c.-77-2A>C variant occurs in a canonical splice site (acceptor) and is therefore predicted to disrupt or distort the normal gene product. The c.-77-2A>C variant has been reported in one study and found in one individual in a heterozygous state (Johnston et al. 2015). However, this individual was not affected with polycystic kidney disease. The variant is reported at a frequency of 0.000067 in the European (non-Finnish) population of the Genome Aggregation Database, but this is based on one allele only in a region of good sequence coverage so the variant is presumed to be rare. Based on the potential impact of splice acceptor variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for polycystic liver disease. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Fulgent Genetics, Fulgent Genetics RCV000778540 SCV002776658 uncertain significance Polycystic liver disease 1 2022-03-04 criteria provided, single submitter clinical testing

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.