ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.7298A>T (p.Asp2433Val)

gnomAD frequency: 0.01078  dbSNP: rs76895755
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153711 SCV000203269 benign not specified 2013-11-25 criteria provided, single submitter clinical testing
Invitae RCV000230737 SCV000291339 benign Autosomal recessive polycystic kidney disease 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000153711 SCV000315824 benign not specified criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000153711 SCV000699874 benign not specified 2019-07-18 criteria provided, single submitter clinical testing Variant summary: PKHD1 c.7298A>T (p.Asp2433Val) results in a non-conservative amino acid change located in the Pectin lyase fold (IPR012334) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.0035 in 282570 control chromosomes, predominantly at a frequency of 0.035 within the African or African-American subpopulation in the gnomAD database, including 20 homozygotes. The observed variant frequency within African or African-American control individuals in the gnomAD database is approximately 5 fold of the estimated maximal expected allele frequency for a pathogenic variant in PKHD1 causing Polycystic Kidney and Hepatic Disease phenotype (0.0071), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. To our knowledge, no occurrence of c.7298A>T in individuals affected with Polycystic Kidney and Hepatic Disease and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submission (evaluation after 2014) classified the variant as benign. Based on the evidence outlined above, the variant was classified as benign.
GeneDx RCV001706026 SCV001896339 benign not provided 2020-03-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV000230737 SCV002078026 benign Autosomal recessive polycystic kidney disease 2017-05-11 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.