ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2597C>G (p.Ser866Cys)

dbSNP: rs776017473
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 RCV001158739 SCV001320393 uncertain significance Autosomal recessive polycystic kidney disease 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics RCV002557358 SCV003636254 uncertain significance Inborn genetic diseases 2022-08-02 criteria provided, single submitter clinical testing The c.2597C>G (p.S866C) alteration is located in exon 25 (coding exon 24) of the PKHD1 gene. This alteration results from a C to G substitution at nucleotide position 2597, causing the serine (S) at amino acid position 866 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.