ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12826C>T (p.Arg4276Trp) (rs114251396)

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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 RCV000757655 SCV000885956 likely benign not provided 2018-04-03 criteria provided, single submitter clinical testing The PKD1 c.12826C>T; p.Arg4276Trp variant (rs114251396), also known as Arg4275Trp for NM_00296.3, is reported in individuals with ADPKD (Badenas 1999, Bataille 2011, Carrera 2016), but has also been co-identified with a pathogenic frameshift variant (Carrera 2016). Additionally, this variant is found in the general population with an overall allele frequency of 0.4% (941/247010 alleles, including 3 homozygotes) in the Genome Aggregation Database, with an increased frequency of 1.5% in the Finnish population. The arginine at codon 4276 is highly conserved, and computational algorithms (SIFT, PolyPhen2) predict that this variant is deleterious. However, given the high frequency in the general population and co-occurrence with a known pathogenic variant, this variant is considered likely benign. REFERENCES Badenas C et al. Mutational analysis within the 3' region of the PKD1 gene. Kidney Int. 1999 Apr;55(4):1225-33. Bataille S et al. High Resolution Melt analysis for mutation screening in PKD1 and PKD2. BMC Nephrol. 2011 Oct 18;12:57. Carrera P et al. Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD). Sci Rep. 2016 Aug 8;6:30850.

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