ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3839G>A (p.Arg1280His)

gnomAD frequency: 0.00011  dbSNP: rs374233100
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587125 SCV000699863 uncertain significance not provided 2016-08-09 criteria provided, single submitter clinical testing Variant summary: The PKHD1 c.3839G>A (p.Arg1280His) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant. This variant is located in the Immunoglobulin-like fold (InterPro). This variant was found in 5/120618 control chromosomes at a frequency of 0.0000415, which does not exceed the estimated maximal expected allele frequency of a pathogenic PKHD1 variant (0.0070711). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories, nor evaluated for functional impact by in vivo/vitro studies. An internal sample carrying this variant also carries another pathogenic variant (c.3761_3762delCCinsG) however phase of the variants is unknown. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Fulgent Genetics, Fulgent Genetics RCV002483572 SCV002786063 uncertain significance Polycystic kidney disease 4 2021-09-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274854 SCV001459385 uncertain significance Autosomal recessive polycystic kidney disease 2018-06-30 no assertion criteria provided 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.