ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3766del (p.Gln1256fs)

dbSNP: rs746972457
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169060 SCV000220223 likely pathogenic Autosomal recessive polycystic kidney disease 2014-04-03 criteria provided, single submitter literature only
Illumina Laboratory Services, Illumina RCV000169060 SCV000464090 uncertain significance Autosomal recessive polycystic kidney disease 2016-07-27 criteria provided, single submitter clinical testing The PKHD1 c.3766delC (p.Gln1256ArgfsTer47) variant causes a frameshift and is predicted to result in premature termination of the protein. The p.Gln1256ArgfsTer47 variant has been reported in one individual with autosomal recessive polycystic kidney disease in whom the second variant could not be identified (Gunay-Aygun et al. 2010). Control data are unavailable for this variant, which is reported at a frequency of 0.00191 in the Latino population of the Exome Aggregation Consortium. Due to the potential impact of frameshift variants and the limited evidence available, the p.Gln1256ArgfsTer47 variant is classified as a variant of unknown significance but suspicious for pathogenicity for autosomal recessive polycystic kidney disease. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Baylor Genetics RCV000169060 SCV001163050 pathogenic Autosomal recessive polycystic kidney disease criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001449933 SCV001653361 likely benign Polycystic kidney disease 4 2021-05-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001449933 SCV001752671 pathogenic Polycystic kidney disease 4 2021-06-30 criteria provided, single submitter clinical testing
GeneDx RCV001558057 SCV001779928 likely pathogenic not provided 2022-12-05 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 31980526, 28375157, 19914852)
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000169060 SCV001984791 pathogenic Autosomal recessive polycystic kidney disease 2020-09-29 criteria provided, single submitter clinical testing This frameshifting variant in exon 32 of 67 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay (NMD). This variant has been previously reported as a heterozygous change in a patient with perinatal onset polycystic kidney disease in whom a second variant was not detected (PMID: 19914852). It is present in the heterozygous state in the gnomAD population database at a frequency of 0.04% (133/282058) and thus is presumed to be rare. Based on the available evidence, the c.3766del (p.Gln1256ArgfsTer47) variant is classified as Pathogenic.
Yale Center for Mendelian Genomics, Yale University RCV000845134 SCV000987070 likely pathogenic Autosomal dominant polycystic liver disease 2017-04-04 no assertion criteria provided literature only

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.