Table 4.

Potentially pathogenic variants in 24 SRNS associated genes

GeneVariantStatePatientFamilial/SporadicdbSNP Ref. No.Population FrequencyPolyPhenMutPred
Definitely pathogenic
 COL4A4Ser969aHom24Sporadicrs35138315No datan/an/a
 NPHS1Arg586GlyHom1, 4, 30FamilialNot in dbSNPNo dataBenign0.824
 NPHS1Val1084fsHom3Sporadic Not in dbSNPNo datan/an/a
 NPHS2Ala284ValHom23FamilialNot in dbSNPNo dataProbably damaging0.945
 PLCE1Arg321aHom5FamilialNot in dbSNPNo datan/an/a
Probably pathogenicNo data
 COQ2Asn228SerCH8Sporadicrs121918232No dataProbably damaging0.75
 COQ2Leu234fs8Not in dbSNPNo datan/an/a
 NPHS1Ala806GlyHom2SporadicNot in dbSNPNo dataPossibly damaging0.805
 NPHS2Arg229GlnCH6, 10Familialrs61747728T=0.0178Possibly damaging0.698
 NPHS2Phe344fs6, 10Not in dbSNPNo datan/an/a
Possibly pathogenic
 APOL1Val369GluHet20Sporadicrs143845266ESP: AT-0.003 TT-0.997Probably damaging0.831
 MYO1EIle531MetHet34Sporadicrs140447165C =0.002Probably damaging0.634
 NPHS1Ala916SerHet6Familialrs138173172ESP: AC 0.006 CC 0.994Probably damaging0.72
 NPHS2Pro20LeuHet17Sporadicrs74315344A=0.0014n/a0.721
 WT1Ala100GlyHet & Hom1, 4FamilialNot in dbSNPNo dataBenign0.723
  • Variants identified by analysis of 24 nephrotic genes according to pathogenicity. Pathogenicity definition as described in the text. dbSNP, single-nucleotide polymorphism database; fs, frame shift; Hom, homozygous; Het, heterozygous; CH, compound heterozygous; n/a, not available.

  • a Nonsense.