DPT — 38 ClinVar variants
All ClinVar germline DPT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →
1 Pathogenic · 6 Benign · 6 Likely benign · 25 Uncertain significance
Full DPT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 26
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 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DPT p.Arg126Gln Uncertain significance Single submitter
- DPT p.Asn40Ser Uncertain significance Single submitter
- DPT p.Cys196Ser Uncertain significance Single submitter
- DPT p.Gln29Arg Uncertain significance Single submitter
- DPT p.Glu94Asp Uncertain significance Single submitter
- DPT p.Ser34Arg Uncertain significance Single submitter
- DPT p.Ser69Pro Uncertain significance Single submitter
- DPT p.Trp102Arg Uncertain significance Single submitter
- DPT p.Tyr103Phe Uncertain significance Single submitter
- DPT p.Tyr153Cys Uncertain significance Single submitter
- DPT p.Tyr75Asp Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- DPT p.Arg134Cys Uncertain significance Single submitter
- DPT p.Arg134His Uncertain significance Single submitter
- DPT p.Arg190Gln Uncertain significance Single submitter
- DPT p.Arg43Gln Uncertain significance Single submitter
- DPT p.Asp158Gly Uncertain significance Single submitter
- DPT p.Glu127Asp Uncertain significance Single submitter
- DPT p.Lys137Asn Uncertain significance Single submitter
- DPT p.Pro51Ala Uncertain significance Single submitter
- DPT p.Pro81Thr Uncertain significance Single submitter
- DPT p.Ser47Gly Uncertain significance Single submitter
- DPT p.Ser69Thr Likely benign Single submitter
- DPT p.Thr105Arg Uncertain significance Single submitter
- DPT p.Thr105Met Uncertain significance Single submitter
- DPT p.Thr88Met Uncertain significance Single submitter
- DPT p.Val59Met Uncertain significance Single submitter
All DPT variants
Pathogenic 1
- p.Arg182Cys Single submitter Progressive sensorineural hearing impairment
Benign 6
- p.Ala58= Multiple submitters
- p.Tyr194= Multiple submitters
- p.Val201Ile Multiple submitters
- p.Glu121Lys Single submitter
- p.Leu3Pro Single submitter
- p.Thr88= Single submitter
Likely benign 6
- p.Phe130= Multiple submitters
- p.Ser83Ile Multiple submitters
- p.Arg138= Single submitter
- p.Asp2Ala Single submitter
- p.Ser34= Single submitter
- p.Ser69Thr Single submitter ⚠
Uncertain significance 25
- p.Arg126Gln Single submitter ⚠
- p.Arg134Cys Single submitter ⚠
- p.Arg134His Single submitter ⚠
- p.Arg190Gln Single submitter ⚠
- p.Arg43Gln Single submitter ⚠
- p.Asn40Ser Single submitter ⚠
- p.Asp158Gly Single submitter ⚠
- p.Cys196Ser Single submitter ⚠
- p.Gln29Arg Single submitter ⚠
- p.Glu127Asp Single submitter ⚠
- p.Glu94Asp Single submitter ⚠
- p.Lys137Asn Single submitter ⚠
- p.Pro51Ala Single submitter ⚠
- p.Pro81Thr Single submitter ⚠
- p.Ser34Arg Single submitter ⚠
- p.Ser47Gly Single submitter ⚠
- p.Ser69Pro Single submitter ⚠
- p.Thr105Arg Single submitter ⚠
- p.Thr105Met Single submitter ⚠
- p.Thr88Met Single submitter ⚠
- p.Trp102Arg Single submitter ⚠
- p.Tyr103Phe Single submitter ⚠
- p.Tyr153Cys Single submitter ⚠
- p.Tyr75Asp Single submitter ⚠
- p.Val59Met Single submitter ⚠