PRORP — 90 ClinVar variants

All ClinVar germline PRORP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →

1 Pathogenic · 4 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 2 Conflicting · 1 Benign · 12 Likely benign · 67 Uncertain significance

Full PRORP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 67

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

PRORP p.Thr387Ala Pathogenic/Likely pathogenic No assertion criteria
combined oxidative phosphorylation deficiency 54

Predictors agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

PRORP p.Met51Val Conflicting Single submitter

Predictors lean, ClinVar uncertain 50

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 15

The independent predictors disagree with each other — read with care.

All PRORP variants

Pathogenic 1

p.Ser298Ter No assertion criteria combined oxidative phosphorylation deficiency 54

Pathogenic/Likely pathogenic 4

p.Ala485Val No assertion criteria combined oxidative phosphorylation deficiency 54 ⚠
p.Arg445Gln No assertion criteria combined oxidative phosphorylation deficiency 54
p.Ser400fs No assertion criteria combined oxidative phosphorylation deficiency 54
p.Thr387Ala No assertion criteria combined oxidative phosphorylation deficiency 54 ⚠

Likely pathogenic 3

p.Ala434Asp Single submitter combined oxidative phosphorylation deficiency 54 ⚠
p.Arg502fs Single submitter combined oxidative phosphorylation deficiency 54
p.His504Tyr No assertion criteria combined oxidative phosphorylation deficiency 54

Conflicting classifications of pathogenicity 2

p.Lys385Asn Single submitter ⚠
p.Met51Val Single submitter ⚠

Benign 1

p.Asn437Ser No assertion criteria PRORP-related disorder

Likely benign 12

p.Lys76= Multiple submitters
p.Ala229Val Single submitter
p.Arg211Gly Single submitter
p.Arg401Cys Single submitter ⚠
p.Arg436Gln Single submitter
p.Arg450Thr Single submitter
p.Ser142Arg Single submitter
p.Ser349Leu Single submitter
p.Thr59Met Single submitter
p.Val157= Single submitter
p.Gln334= No assertion criteria PRORP-related disorder
p.Leu230= No assertion criteria PRORP-related disorder

Uncertain significance 67

p.Arg421Cys Multiple submitters combined oxidative phosphorylation deficiency 54 ⚠
p.Arg502Gln Multiple submitters combined oxidative phosphorylation deficiency 54 ⚠
p.Asn412Ser Multiple submitters Perrault syndrome 1 ⚠
c.-1A>G Single submitter
p.Ala104Val Single submitter ⚠
p.Ala158Thr Single submitter ⚠
p.Ala506Ser Single submitter ⚠
p.Ala527Val Single submitter ⚠
p.Ala63Thr Single submitter ⚠
p.Ala89Gly Single submitter ⚠
p.Ala89Val Single submitter ⚠
p.Arg401His Single submitter ⚠
p.Arg445Trp Single submitter ⚠
p.Arg93Lys Single submitter ⚠
p.Arg93Thr Single submitter ⚠
p.Asn412Asp Single submitter ⚠
p.Asp235Asn Single submitter ⚠
p.Asp378Gly Single submitter ⚠
p.Cys578Phe Single submitter ⚠
p.Cys578Ser Single submitter ⚠
p.Gln312Ter Single submitter combined oxidative phosphorylation deficiency 54
p.Gln54Arg Single submitter ⚠
p.Gln581Glu Single submitter ⚠
p.Gln77Lys Single submitter ⚠
p.Glu459Lys Single submitter ⚠
p.Glu461Lys Single submitter ⚠
p.Glu477Asp Single submitter ⚠
p.His321Gln Single submitter ⚠
p.His488Arg Single submitter ⚠
p.His492Pro Single submitter
p.Ile112Val Single submitter ⚠
p.Ile236Leu Single submitter ⚠
p.Ile398Leu Single submitter ⚠
p.Ile62Val Single submitter ⚠
p.Leu131Val Single submitter ⚠
p.Leu220Trp Single submitter ⚠
p.Leu440Pro Single submitter ⚠
p.Leu45Met Single submitter ⚠
p.Lys13Asn Single submitter ⚠
p.Lys49Arg Single submitter ⚠
p.Lys536Asn Single submitter ⚠
p.Met201Thr Single submitter ⚠
p.Met278Thr Single submitter ⚠
p.Met460Ile Single submitter ⚠
p.Phe140Leu Single submitter ⚠
p.Phe394Leu Single submitter ⚠
p.Phe532Cys Single submitter ⚠
p.Phe6fs Single submitter
p.Phe84Val Single submitter ⚠
p.Pro12Arg Single submitter ⚠
p.Pro402Leu Single submitter ⚠
p.Pro418Arg Single submitter ⚠
p.Pro559Leu Single submitter ⚠
p.Ser146Leu Single submitter ⚠
p.Ser214Gly Single submitter ⚠
p.Ser322Asn Single submitter ⚠
p.Ser52Phe Single submitter ⚠
p.Ser74Gly Single submitter ⚠
p.Thr341Ile Single submitter ⚠
p.Thr59fs Single submitter combined oxidative phosphorylation deficiency 54
p.Trp556Cys Single submitter ⚠
p.Tyr267Cys Single submitter ⚠
p.Tyr28Ter Single submitter
p.Tyr383Cys Single submitter ⚠
p.Val165Ile Single submitter ⚠
p.Val430Ile Single submitter ⚠
p.Tyr365His No assertion criteria combined oxidative phosphorylation deficiency 54 ⚠