Table 1 Pathogenic variants identified in three PKD1/2-negative patients.

From: Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes

ID

Sex

Age (years)

eGFR (ml/min/1.73m2)

Age at ESRD (years)

Gene

Variant (c.) zygosity

Variant (p.)

ACMG gnomADAF

Ref.

Extrarenal phenotype

2.1

F

47

<10

30

PKHD1

c.4870C>T

het

c.9370C>T

het

p.Arg1624Trp

p.His3124Tyr

P

0.02%

P

none

HGMD

HGMD

No liver cysts

Ovarian cysts

HPT

87.1

F

31

>90

–

ALG9

c.427C>T

het

p.Arg143*

P

0.0016%

HGMD

No liver cysts

29.1

M

66

<10

56

FLCN

c.1523A>G

het

p.Lys508Arg

P

0.04%

HGMD

No liver cysts

DV

  1. Given gnomAD allele frequencies (gnomADAF) refer to the corresponding ancestry of the index patient, in these cases European non-Finnish. None indicates no entry in gnomAD.
  2. ACMG American College of Medical Genetics and Genomics, DV diverticulosis, eGFR estimated glomerular filtration rate (CKD-EPI; ml/min/1.73m2), ESRD end-stage renal disease, F female, HGMD Human Gene Mutation Database (version 2019.4), HPT hypothyroidism, M male, P pathogenic.
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