ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8464G>A (p.Val2822Met) (rs201289693)

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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 RCV001000506 SCV001157408 uncertain significance Polycystic kidney disease, adult type 2019-05-28 criteria provided, single submitter clinical testing The PKD1 c.8464G>A; p.Val2822Met variant (rs201289693) is reported in the literature in individuals affected with autosomal dominant polycystic kidney disease (Hwang 2016, Vouk 2006), but has also been reported in a family with another variant in both PKD1 and PKD2, so it is unclear if this variant is causative for disease in this family (Rossetti 2012). This variant is found in the Ashkenazi Jewish population with an allele frequency of 0.92% (94/10244 alleles, including a single homozygote) in the Genome Aggregation Database. The valine at codon 2822is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Val2822Met 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. 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. Vouk K et al. PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease. BMC Med Genet. 2006 Jan 23;7:6.

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