ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9430G>A (p.Gly3144Arg) (rs1596515144)

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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 RCV001002517 SCV001160476 uncertain significance Polycystic kidney disease, adult type 2019-04-11 criteria provided, single submitter clinical testing The PKD1 c.9430G>A; p.Gly3144Arg variant is reported in the literature in a single individual affected with autosomal dominant polycystic kidney disease (ADPKD) (Cornec-Le Gall 2016). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The glycine at codon 3144 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Additionally, other amino acid substitutions at this codon (p.Gly3144Glu and p.Gly3144Trp) have been reported in individuals with ADPKD and are considered likely pathogenic (Audrezet 2012, Cornec-Le Gall 2016). However, due to a lack of clinical and functional data, the significance of the p.Gly3144Arg variant is uncertain at this time. References: Audrezet MP et al. Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. Hum Mutat. 2012 Aug;33(8):1239-50. Cornec-Le Gall E et al. The PROPKD Score: A New Algorithm to Predict Renal Survival in Autosomal Dominant Polycystic Kidney Disease. J Am Soc Nephrol. 2016 Mar;27(3):942-51.

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