ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8372G>A (p.Arg2791Gln) (rs367746233)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001040 SCV001158154 uncertain significance Polycystic kidney disease, adult type 2019-02-01 criteria provided, single submitter clinical testing The PKD1 c.8372G>A; p.Arg2791Gln variant (rs367746233) is reported in the literature in an individual affected with ADPKD; however, it was not demonstrated to be disease-causing (Watnick 1997). This variant is reported as a likely neutral variant in the ADPKD Mutation Database, though the evidence for its classification is not provided. This variant is found in the general population with an overall allele frequency of 0.01% (33/274452 alleles) in the Genome Aggregation Database. The arginine at codon 2791 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, due to limited information, the clinical significance of the Arg2791Gln variant is uncertain at this time. References: ADPKD Mutation Database: Watnick TJ et al. An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection. Hum Mol Genet. 1997 Sep;6(9):1473-81.

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