PTH — 54 ClinVar variants
All ClinVar germline PTH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 27 flagged for review →
3 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 1 Conflicting · 8 Benign · 2 Benign/Likely benign · 5 Likely benign · 29 Uncertain significance
Full PTH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 27
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 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
PTH p.Arg56Cys
Pathogenic/Likely pathogenic
Multiple submitters
PTH-related disorder
-
PTH p.Ser23Pro
Pathogenic
No assertion criteria
hypoparathyroidism, familial isolated 1
Predictors lean, ClinVar uncertain 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PTH p.Ala77Asp Uncertain significance Multiple submitters
- PTH p.Ala16Glu Uncertain significance Single submitter
- PTH p.Ala67Thr Uncertain significance Single submitter
- PTH p.Ala77Thr Uncertain significance Single submitter
-
PTH p.Arg56His
Uncertain significance
Single submitter
hypoparathyroidism, familial isolated 1
-
PTH p.Asn64Ser
Uncertain significance
Single submitter
familial hypoparathyroidism
- PTH p.Asp102Asn Uncertain significance Single submitter
- PTH p.Glu86Lys Uncertain significance Single submitter
- PTH p.Glu92Ala Uncertain significance Single submitter
- PTH p.Glu95Asp Uncertain significance Single submitter
- PTH p.Leu46Val Uncertain significance Single submitter
- PTH p.Leu90Phe Uncertain significance Single submitter
- PTH p.Lys84Arg Uncertain significance Single submitter
- PTH p.Met7Thr Uncertain significance Single submitter
- PTH p.Phe65Val Uncertain significance Single submitter
- PTH p.Val28Phe Uncertain significance Single submitter
- PTH p.Val62Met Uncertain significance Single submitter
- PTH p.Asn41Ser Uncertain significance No assertion criteria
- PTH p.Glu100Asp Uncertain significance No assertion criteria
Predictors split 6
The independent predictors disagree with each other — read with care.
-
PTH p.Asn41Lys
Uncertain significance
Single submitter
familial hypoparathyroidism
- PTH p.His40Tyr Uncertain significance Single submitter
-
PTH p.Ser32Pro
Likely pathogenic
Single submitter
hypoparathyroidism, familial isolated 1
- PTH p.Ser34Asn Uncertain significance Single submitter
- PTH p.Trp54Arg Uncertain significance Single submitter
-
PTH p.Val33Glu
Uncertain significance
Single submitter
hypoparathyroidism, familial isolated 1
All PTH variants
Pathogenic 3
- c.86+4A>T Single submitter
- c.86+1G>C No assertion criteria hypoparathyroidism, familial isolated 1
- p.Ser23Pro No assertion criteria hypoparathyroidism, familial isolated 1 ⚠
Pathogenic/Likely pathogenic 1
- p.Arg56Cys Multiple submitters PTH-related disorder ⚠
Likely pathogenic 5
- p.Ala16Lys Single submitter
- p.Arg83Ter Single submitter familial hypoparathyroidism
- p.Cys18Arg Single submitter PTH-related disorder
- p.Met1fs Single submitter hypoparathyroidism, familial isolated 1
- p.Ser32Pro Single submitter hypoparathyroidism, familial isolated 1 ⚠
Conflicting classifications of pathogenicity 1
- p.Lys57Ter Single submitter hypoparathyroidism, familial isolated 1
Benign 8
- c.86+9T>G Multiple submitters familial hypoparathyroidism
- c.87-50G>A Multiple submitters
- c.-5-98G>A Multiple submitters
- c.*319A>G Multiple submitters familial hypoparathyroidism
- p.Glu92= Multiple submitters familial hypoparathyroidism
- c.*187_*188del Single submitter
- c.*51A>G Single submitter familial hypoparathyroidism
- p.Ser23= Single submitter familial hypoparathyroidism
Benign/Likely benign 2
- c.-5-10G>A Multiple submitters hypoparathyroidism, familial isolated 1
- p.Arg83= Multiple submitters hypoparathyroidism, familial isolated 1
Likely benign 5
- p.His40= Single submitter
- p.Leu42= Single submitter
- p.Leu59= Single submitter
- p.Pro71Ser Single submitter
- p.Val66Ile Single submitter
Uncertain significance 29
- c.-33C>T Multiple submitters familial hypoparathyroidism
- p.Ala77Asp Multiple submitters ⚠
- c.86+4_86+7del Single submitter hypoparathyroidism, familial isolated 1
- c.*55C>T Single submitter familial hypoparathyroidism
- c.*97A>G Single submitter familial hypoparathyroidism
- p.Ala16Glu Single submitter ⚠
- p.Ala67Thr Single submitter ⚠
- p.Ala77Thr Single submitter ⚠
- p.Arg56His Single submitter hypoparathyroidism, familial isolated 1 ⚠
- p.Asn41Lys Single submitter familial hypoparathyroidism ⚠
- p.Asn64Ser Single submitter familial hypoparathyroidism ⚠
- p.Asp102Asn Single submitter ⚠
- p.Glu86Lys Single submitter ⚠
- p.Glu92Ala Single submitter ⚠
- p.Glu95Asp Single submitter ⚠
- p.Gly43Glu Single submitter hypoparathyroidism, familial isolated 1
- p.His40Tyr Single submitter ⚠
- p.Leu46Val Single submitter ⚠
- p.Leu90Phe Single submitter ⚠
- p.Lys84Arg Single submitter ⚠
- p.Met7Thr Single submitter ⚠
- p.Phe65Val Single submitter ⚠
- p.Ser34Asn Single submitter ⚠
- p.Trp54Arg Single submitter ⚠
- p.Val28Phe Single submitter ⚠
- p.Val33Glu Single submitter hypoparathyroidism, familial isolated 1 ⚠
- p.Val62Met Single submitter ⚠
- p.Asn41Ser No assertion criteria ⚠
- p.Glu100Asp No assertion criteria ⚠