ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2695A>G (p.Thr899Ala)

gnomAD frequency: 0.00001  dbSNP: rs922828020
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
Invitae RCV001045102 SCV001208935 uncertain significance Autosomal recessive polycystic kidney disease 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 899 of the PKHD1 protein (p.Thr899Ala). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002552573 SCV003756925 uncertain significance Inborn genetic diseases 2021-08-23 criteria provided, single submitter clinical testing The c.2695A>G (p.T899A) alteration is located in exon 25 (coding exon 24) of the PKHD1 gene. This alteration results from a A to G substitution at nucleotide position 2695, causing the threonine (T) at amino acid position 899 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001045102 SCV002081019 uncertain significance Autosomal recessive polycystic kidney disease 2020-02-21 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.