ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12465T>G (p.Phe4155Leu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Swedish Neurofibromatosis Center,Swedish Medical Center RCV001090170 SCV001244197 likely pathogenic Polycystic kidney disease, adult type 2020-04-17 criteria provided, single submitter clinical testing
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001090170 SCV001251214 pathogenic Polycystic kidney disease, adult type 2020-02-05 criteria provided, single submitter research PM2, PP3, PP4
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001090170 SCV001477714 uncertain significance Polycystic kidney disease, adult type 2020-04-01 criteria provided, single submitter clinical testing The PKD1 c.12465T>G; p.Phe4155Leu variant is reported in the literature in individuals affected with autosomal dominant polycystic kidney disease (ADPKD) (Hwang 2016). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The phenylalanine at codon 4155 is highly conserved, and] computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Additionally, another variant at this codon (c.12463T>G; p.Phe4155Val) has been reported in individuals with ADPKD (Tan 2009). However, given the lack of clinical and functional data, the significance of the p.Phe4155Leu variant is uncertain at this time. References: Hwang YH et al. Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease. J Am Soc Nephrol. 2016 Jun;27(6):1861-8. Tan YC et al. Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. Hum Mutat. 2009 Feb;30(2):264-73.

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