ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.10698_10703GGCTGT[2] (p.3567_3568AV[2]) (rs777460677)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000499512 SCV000592848 pathogenic Autosomal recessive polycystic kidney disease criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002255 SCV001160131 likely pathogenic Polycystic kidney disease, adult type 2018-11-24 criteria provided, single submitter clinical testing The PKD1 c.10710_10715del; p.Ala3571_Val3572del variant (rs777460677) has been described in the literature in association with autosomal dominant polycystic kidney disease (ADPKD; Alberer 2010, Canaud 2010, He 2018). It is reported in ClinVar (Variation ID: 434001), and is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This variant deletes 2 residues (alanine and valine), leaving the rest of the protein in-frame. Based on available information, this variant is considered likely pathogenic. REFERENCES Alberer M et al. Reduced methotrexate clearance and renal impairment in a boy with osteosarcoma and earlier undetected autosomal dominant polycystic kidney disease (ADPKD). J Pediatr Hematol Oncol. 2010 Nov;32(8):e314-6. Canaud G et al. Therapeutic mTOR inhibition in autosomal dominant polycystic kidney disease: What is the appropriate serum level? Am J Transplant. 2010 Jul;10(7):1701-6. He W et al. Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction. BMC Med Genet. 2018 Oct 17;19(1):186.

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