Table 3.

Genetic information and the strength of the genetic variants for patients diagnosed with pathogenic PKD1 variant

Family IdentifierVariantType of VariantIndication for testingAge of DiagnosisCADD Score
RGC-001c.7987C>T (p.Q2663*) (het)Stop gainFamily history of cystic kidney disease but not definitive for ADPKD and symptomatic2 yrTruncating
RGC-003Partial PKD1 gene deletion (at least exons 27–38) (het)Partial gene deletionNo family history, but symptomatic3 moNA
RGC-009c.7483T>C (p.C2495R) (het)MissenseFamily history of ADPKD and symptomatic9 yr24.2
RGC-0021c.1259A>G (p.Y420C) (het)MissenseNo family history but symptomatic18 mo23.6
RGC-0029c.2659delT (p.W887Gfs*11) (het)FrameshiftNo family history but symptomatic2 yrTruncating
RGC-0055c.7483T>C (p.C2495R) (het)MissenseFamily history of ADPKD, bilateral cystic kidney disease, and duplicated collecting system10 yr24.2
RGC-0063c.7111del (p.V2371Cfs*11) (het)FrameshiftPositive family history of ADPKD and symptomatic1 yrTruncating
RGC-0072c.9859_9861del (p.L3287del) (het)In-frame deletionFamily history of kidney disease and symptomatic10 yrNA
RGC-0077Likely pathogenic c.8948+1G>T (het) (novel), VUS c.9550G>C (p.V3184L) (het)Splice site, MissenseFamily history of cystic kidney disease but not definitive for ADPKD and symptomaticPrenatal33
23.9
RGC-0078Likely pathogenic c.9829C>T (p.R3277C) (het), c.3494A>G (p. D1165G) (het)MissenseFamily history of cystic kidney disease but not definitive for ADPKD and symptomaticPrenatal23.9
24.6
RGC-0087c.11017–10C>A (IVS37–10C>A) (het)Splice siteNo family history but symptomatic5 yrPredicted to skip exon 38 likely to be nontruncating (12)
RGC-0088c.6806C>G (p.S2269*) (het)Stop gainFamily history of ADPKD and symptomatic6 yrTruncating
RGC-0091c.8043_8046delCTCG (p.S2682Afs*2) (het)FrameshiftFamily history of kidney disease and symptomatic6 yrTruncating
RGC-0128c.8016+2T>C (IVS21+2T>C) (het) (novel)Splice siteFamily history of cystic kidney disease but not definitive for ADPKD and symptomatic2 yrTruncating
RGC-0132c.11712+1G>A (het)Splice siteFamily history of cystic kidney disease but not definitive for ADPKD and symptomatic16 yrTruncating (13)
  • CADD, Combined Annotation Dependent Depletion; het, heterozygous; ADPKD, autosomal dominant polycystic kidney disease; NA, not applicable; VUS, variant of uncertain significance.