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Table 3 Novel variants with unknown clinical significance found in this study

From: Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease

Gene

Exon/Intron

cDNA change

AA change

Known/Novel

HSF prediction

Family history

PKD1

42

c.11604G > Ca

p.Thr3868=

Novel

Potentially affects enhancer motif

+

PKD2

IVS1

c.595 + 15C > T

?

Novel

No effect on normal splicing

-

  1. Neither variations were observed in healthy controls in this study; HSF, Human Splice Finder software (http://umd.be/HSF/) used to predict splicing signals.
  2. aThis variant was observed in one patient with a family history of polycystic kidney disease (mother). Unfortunately, molecular diagnostic test results for his affected family member were not available.