PRPF19 — 45 ClinVar variants
All ClinVar germline PRPF19 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 43 flagged for review →
1 Likely pathogenic · 44 Uncertain significance
Full PRPF19 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 43
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 30
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PRPF19 p.Ala35Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Ala491Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Arg100Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Arg303Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Asn434Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Asn434Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Asn434Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Asp319Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Cys16Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Gln137Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Gly350Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Gly476Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Ile335Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Ile461Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Ile53Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Leu278Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Leu321Val
Uncertain significance
Single submitter
Inborn genetic diseases
- PRPF19 p.Leu499Phe Uncertain significance Single submitter
-
PRPF19 p.Lys122Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Lys192Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Lys206Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Lys236Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Met168Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Pro151Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Pro72Leu
Uncertain significance
Single submitter
autism
-
PRPF19 p.Ser269Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Ser307Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Thr429Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Tyr460Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Lys265Arg
Uncertain significance
No assertion criteria
non-immune hydrops fetalis
Predictors split 13
The independent predictors disagree with each other — read with care.
-
PRPF19 p.Ala487Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Asp277His
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Asp334Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Asp54Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Ile237Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Leu107Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Leu341Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Leu47Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Leu52Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Met495Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Ser292Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Ser475Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRPF19 p.Thr259Ala
Uncertain significance
Single submitter
Inborn genetic diseases
All PRPF19 variants
Likely pathogenic 1
- p.Ile172Ser Single submitter Inborn genetic diseases
Uncertain significance 44
- p.Ala35Val Single submitter Inborn genetic diseases ⚠
- p.Ala487Thr Single submitter Inborn genetic diseases ⚠
- p.Ala491Thr Single submitter Inborn genetic diseases ⚠
- p.Arg100Gly Single submitter Inborn genetic diseases ⚠
- p.Arg303Gln Single submitter Inborn genetic diseases ⚠
- p.Asn434Asp Single submitter Inborn genetic diseases ⚠
- p.Asn434Ile Single submitter Inborn genetic diseases ⚠
- p.Asn434Lys Single submitter Inborn genetic diseases ⚠
- p.Asp277His Single submitter Inborn genetic diseases ⚠
- p.Asp319Asn Single submitter Inborn genetic diseases ⚠
- p.Asp334Asn Single submitter Inborn genetic diseases ⚠
- p.Asp54Asn Single submitter Inborn genetic diseases ⚠
- p.Cys16Arg Single submitter Inborn genetic diseases ⚠
- p.Gln137Pro Single submitter Inborn genetic diseases ⚠
- p.Gly350Ser Single submitter Inborn genetic diseases ⚠
- p.Gly476Ser Single submitter Inborn genetic diseases ⚠
- p.Ile237Phe Single submitter Inborn genetic diseases ⚠
- p.Ile335Val Single submitter Inborn genetic diseases ⚠
- p.Ile461Phe Single submitter Inborn genetic diseases ⚠
- p.Ile53Val Single submitter Inborn genetic diseases ⚠
- p.Leu107Met Single submitter Inborn genetic diseases ⚠
- p.Leu278Val Single submitter Inborn genetic diseases ⚠
- p.Leu321Val Single submitter Inborn genetic diseases ⚠
- p.Leu341Phe Single submitter Inborn genetic diseases ⚠
- p.Leu47Val Single submitter Inborn genetic diseases ⚠
- p.Leu499Phe Single submitter ⚠
- p.Leu52Val Single submitter Inborn genetic diseases ⚠
- p.Lys122Arg Single submitter Inborn genetic diseases ⚠
- p.Lys192Arg Single submitter Inborn genetic diseases ⚠
- p.Lys206Arg Single submitter Inborn genetic diseases ⚠
- p.Lys236Arg Single submitter Inborn genetic diseases ⚠
- p.Met168Val Single submitter Inborn genetic diseases ⚠
- p.Met495Thr Single submitter Inborn genetic diseases ⚠
- p.Pro151Ser Single submitter Inborn genetic diseases ⚠
- p.Pro72Leu Single submitter autism ⚠
- p.Ser269Asn Single submitter Inborn genetic diseases ⚠
- p.Ser292Leu Single submitter Inborn genetic diseases ⚠
- p.Ser307Gly Single submitter Inborn genetic diseases ⚠
- p.Ser475Arg Single submitter Inborn genetic diseases ⚠
- p.Thr259Ala Single submitter Inborn genetic diseases ⚠
- p.Thr429Ile Single submitter Inborn genetic diseases ⚠
- p.Tyr460Phe Single submitter Inborn genetic diseases ⚠
- p.Val11Met Single submitter Inborn genetic diseases
- p.Lys265Arg No assertion criteria non-immune hydrops fetalis ⚠