ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8286C>T (p.Asp2762=)

gnomAD frequency: 0.00004  dbSNP: rs749740610
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000874322 SCV001016480 likely benign Autosomal recessive polycystic kidney disease 2023-10-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579052 SCV001806444 likely benign Polycystic kidney disease 4 2021-07-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001579052 SCV002808825 likely benign Polycystic kidney disease 4 2021-12-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908306 SCV004721594 likely benign PKHD1-related disorder 2021-01-20 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001292263 SCV001480922 likely benign Polycystic kidney disease no assertion criteria provided clinical testing The PKHD1 p.Asp2762= variant was not identified in the literature nor was it identified in the ClinVar, GeneInsight-COGR, LOVD 3.0, RWTH AAachen University ARPKD, databases. The variant was identified in dbSNP (ID: rs749740610) as N/A, database. The variant was identified in control databases in 14 of 276862 chromosomes at a frequency of 0.000051 (Genome Aggregation Database Feb 27, 2017). Breakdown of the observations by population include African in 2 of 24024 chromosomes (freq: 0.000083), European Non-Finnish in 3 of 126532 chromosomes (freq: 0.000024), East Asian in 7 of 18830 chromosomes (freq: 0.000372), and South Asian in 2 of 30780 chromosomes (freq: 0.000065), while the variant was not observed in the Other, Latino, Ashkenazi Jewish, European Finnish, populations. The p.Asp2762= variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. In addition, in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign.

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.