ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6979C>T (p.Arg2327Trp) (rs184394342)

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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 RCV000757646 SCV000885946 likely benign not provided 2017-09-10 criteria provided, single submitter clinical testing The PKD1 c.6979C>T, p.Arg2327Trp variant (rs184394342) has been reported in an individual with autosomal dominant polycystic kidney disease (Rossetti 2012), but also found to occur with a PKD1 truncating variant (Mayo ADPKD variant database). It is observed in the general population databases at a frequency of 0.14 percent in the 1000 Genomes Project (7/5008 alleles), and 0.03 percent in the Genome Aggregation Database (55/175170 alleles). The arginine at residue 2327 is weakly conserved, but computational algorithms (Align GVGD: C0; Mutation Taster: polymorphism; PolyPhen-2: probably damaging; SIFT: damaging) are inconclusive on the variant's impact on the protein. Due to its co-occurrence with a truncating PKD1 variant, the p.Arg2327Trp variant is considered likely benign. References: Mayo ADPKD variant database: http://pkdb.mayo.edu/ Rossetti S et al. Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing. J Am Soc Nephrol. 2012; 23(5):915-33.

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