Sugi Variant

Sugi Variant/PTH1R

PTH1R — 449 ClinVar variants

All ClinVar germline PTH1R variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 214 flagged for review →

20 Pathogenic · 11 Likely pathogenic · 35 Conflicting · 15 Benign · 15 Benign/Likely benign · 111 Likely benign · 242 Uncertain significance

Full PTH1R gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 214

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 agree, ClinVar conflicts 13

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

Predictors lean, ClinVar uncertain 169

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 169

Predictors split 32

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

All PTH1R variants

Pathogenic 20

  • p.Arg104Ter Multiple submitters PTH1R-related disorder
  • p.His223Arg Multiple submitters primary failure of tooth eruption
  • c.1353+1G>T Single submitter primary failure of tooth eruption
  • c.639-2A>G Single submitter primary failure of tooth eruption
  • p.Ala333fs Single submitter
  • p.Arg383Gln Single submitter chondrodysplasia Blomstrand type
  • p.Gln401Ter Single submitter
  • p.Ile222Ser Single submitter primary failure of tooth eruption
  • p.Ile458Arg Single submitter metaphyseal chondrodysplasia, Jansen type
  • p.Ile458Lys Single submitter metaphyseal chondrodysplasia, Jansen type
  • p.Ser229Pro Single submitter primary failure of tooth eruption
  • p.Val365fs Single submitter chondrodysplasia Blomstrand type
  • p.Val412fs Single submitter primary failure of tooth eruption
  • c.1049+29C>T No assertion criteria chondrodysplasia Blomstrand type
  • c.1050-3C>G No assertion criteria primary failure of tooth eruption
  • c.543+1G>A No assertion criteria primary failure of tooth eruption
  • p.Arg485Ter No assertion criteria Eiken syndrome
  • p.Glu155Ter No assertion criteria primary failure of tooth eruption
  • p.Thr410Arg No assertion criteria metaphyseal chondrodysplasia, Jansen type
  • p.Thr410Pro No assertion criteria metaphyseal chondrodysplasia, Jansen type

Likely pathogenic 11

  • c.1212-2A>T Single submitter
  • c.38_75+195del Single submitter PTH1R-related disorder
  • c.75+1del Single submitter primary failure of tooth eruption
  • c.989-2A>G Single submitter metaphyseal chondrodysplasia, Jansen type
  • p.Asp241Glu Single submitter pseudohypoparathyroidism ⚠
  • p.Glu469Lys Single submitter brachydactyly type E1
  • p.Trp298Gly Single submitter primary failure of tooth eruption
  • p.Tyr245Ter Single submitter primary failure of tooth eruption
  • p.Tyr305Ter Single submitter primary failure of tooth eruption
  • p.Val204Glu Single submitter metaphyseal chondrodysplasia, Jansen type
  • p.His442_Met445del No assertion criteria primary failure of tooth eruption

Conflicting classifications of pathogenicity 35

Benign 15

Benign/Likely benign 15

  • c.1212-18C>T Multiple submitters Eiken syndrome
  • c.1353+17C>T Multiple submitters
  • c.1395+15G>A Multiple submitters primary failure of tooth eruption
  • c.313+32A>G Multiple submitters
  • c.75+12G>A Multiple submitters chondrodysplasia Blomstrand type
  • c.75+7C>T Multiple submitters
  • c.-37G>A Multiple submitters metaphyseal chondrodysplasia, Jansen type
  • p.Ala72= Multiple submitters metaphyseal chondrodysplasia, Jansen type
  • p.Arg146= Multiple submitters chondrodysplasia Blomstrand type
  • p.Arg150Cys Multiple submitters connective tissue disorder
  • p.Glu546Lys Multiple submitters connective tissue disorder
  • p.Gly100Asp Multiple submitters connective tissue disorder
  • p.Pro17= Multiple submitters
  • p.Thr257= Multiple submitters metaphyseal chondrodysplasia, Jansen type
  • p.Thr410= Multiple submitters

Likely benign 111

Uncertain significance 242