ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) (rs144979397)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000162091 SCV000604787 uncertain significance Polycystic kidney disease, adult type 2018-09-22 criteria provided, single submitter clinical testing The PKD1 c.8293C>T; p.Arg2765Cys variant (rs144979397) is reported in the literature in the compound heterozygous state with a truncating PKD1 variant on the opposite chromosome in multiple individuals with autosomal polycystic kidney disease, or in the heterozygous state in fetuses affected with in-utero polycystic kidney disease, suggesting that this is a hypomorphic allele (McCluskey 2002, Rossetti 2001, Rossetti 2009, Rossetti 2012). This variant is listed in ClinVar (Variation ID: 183257), and is found in the general population with an allele frequency of 0.47% (1299/278,546 alleles, including 9 homozygotes) in the Genome Aggregation Database. The arginine at residue 2765 is moderately conserved, and computational algorithms (PolyPhen-2, SIFT) predict that the variant is deleterious. Due to the conflicting information regarding this variant, its clinical significance could not be determined with certainty. References: McCluskey M et al. Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families. Hum Mutat. 2002; 19(3):240-50. Rossetti S et al. Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications. Am J Hum Genet. 2001; 68(1):46-63. Rossetti S et al. Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. Kidney Int. 2009; 75(8):848-55. Rossetti S et al. Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing. J Am Soc Nephrol. 2012 May;23(5):915-33.
Mendelics RCV000162091 SCV001139779 uncertain significance Polycystic kidney disease, adult type 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000507033 SCV001145016 benign not provided 2019-03-30 criteria provided, single submitter clinical testing
Laboratory of Gastroenterology and Hepatology,Radboud University Medical Center RCV000162091 SCV000212090 not provided Polycystic kidney disease, adult type no assertion provided not provided
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000162091 SCV001192663 likely pathogenic Polycystic kidney disease, adult type 2019-11-26 no assertion criteria provided clinical testing

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