DLST — 157 ClinVar variants
All ClinVar germline DLST variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 87 flagged for review →
2 Conflicting · 12 Benign · 1 Benign/Likely benign · 44 Likely benign · 98 Uncertain significance
Full DLST gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 87
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 35
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DLST p.Arg6Ser Uncertain significance Multiple submitters
- DLST p.Asn44Ser Uncertain significance Multiple submitters
- DLST p.Asn51Asp Uncertain significance Multiple submitters
-
DLST p.Gly216Val
Uncertain significance
Multiple submitters
pheochromocytoma/paraganglioma syndrome 7
- DLST p.Lys67Arg Uncertain significance Multiple submitters
- DLST p.Ser195Pro Uncertain significance Multiple submitters
- DLST p.Ala119Glu Uncertain significance Single submitter
- DLST p.Ala211Pro Uncertain significance Single submitter
- DLST p.Ala235Val Uncertain significance Single submitter
- DLST p.Arg220Cys Uncertain significance Single submitter
- DLST p.Arg325Trp Uncertain significance Single submitter
- DLST p.Arg425Gln Uncertain significance Single submitter
- DLST p.Arg6Gly Uncertain significance Single submitter
- DLST p.Cys24Tyr Uncertain significance Single submitter
- DLST p.Cys37Trp Uncertain significance Single submitter
- DLST p.Glu336Asp Uncertain significance Single submitter
-
DLST p.Gly374Glu
Uncertain significance
Single submitter
pheochromocytoma/paraganglioma syndrome 7
- DLST p.Ile180Leu Uncertain significance Single submitter
- DLST p.Ile180Val Uncertain significance Single submitter
- DLST p.Leu26Val Uncertain significance Single submitter
-
DLST p.Leu436His
Uncertain significance
Single submitter
oxoglutaricaciduria
- DLST p.Leu450Pro Uncertain significance Single submitter
- DLST p.Lys154Glu Uncertain significance Single submitter
- DLST p.Met230Ile Uncertain significance Single submitter
- DLST p.Met364Thr Uncertain significance Single submitter
- DLST p.Pro190Ser Uncertain significance Single submitter
- DLST p.Pro25Leu Uncertain significance Single submitter
- DLST p.Pro446Arg Uncertain significance Single submitter
- DLST p.Ser372Gly Uncertain significance Single submitter
- DLST p.Ser56Asn Uncertain significance Single submitter
- DLST p.Thr348Ala Uncertain significance Single submitter
- DLST p.Thr383Lys Uncertain significance Single submitter
- DLST p.Tyr42Cys Uncertain significance Single submitter
- DLST p.Val328Met Uncertain significance Single submitter
-
DLST p.Arg233Cys
Uncertain significance
No assertion criteria
DLST-related disorder
Predictors split 52
The independent predictors disagree with each other — read with care.
- DLST p.Ala264Val Uncertain significance Multiple submitters
- DLST p.Arg437Cys Uncertain significance Multiple submitters
- DLST p.Arg4Gln Uncertain significance Multiple submitters
-
DLST p.Asp304Gly
Uncertain significance
Multiple submitters
pheochromocytoma/paraganglioma syndrome 7
-
DLST p.Ile106Val
Uncertain significance
Multiple submitters
DLST-related disorder
- DLST p.Leu449Val Uncertain significance Multiple submitters
- DLST p.Met256Val Uncertain significance Multiple submitters
- DLST p.Pro129Leu Uncertain significance Multiple submitters
- DLST p.Pro164Ser Uncertain significance Multiple submitters
- DLST p.Pro186Ala Uncertain significance Multiple submitters
- DLST p.Pro204Leu Benign Multiple submitters
- DLST p.Thr346Ile Uncertain significance Multiple submitters
- DLST p.Thr96Ile Uncertain significance Multiple submitters
- DLST p.Val448Ala Uncertain significance Multiple submitters
- DLST p.Ala162Val Benign Single submitter
-
DLST p.Ala171Val
Uncertain significance
Single submitter
DLST-related disorder
- DLST p.Ala177Gly Uncertain significance Single submitter
- DLST p.Ala442Val Uncertain significance Single submitter
- DLST p.Ala77Val Uncertain significance Single submitter
- DLST p.Arg10Trp Uncertain significance Single submitter
- DLST p.Arg312Lys Uncertain significance Single submitter
- DLST p.Arg345Trp Uncertain significance Single submitter
- DLST p.Arg413Gln Uncertain significance Single submitter
- DLST p.Arg4Gly Uncertain significance Single submitter
- DLST p.Arg58Cys Uncertain significance Single submitter
- DLST p.Asn228Lys Uncertain significance Single submitter
- DLST p.Asn357Asp Uncertain significance Single submitter
- DLST p.Asp68Gly Uncertain significance Single submitter
- DLST p.Gln295Glu Uncertain significance Single submitter
- DLST p.Glu352Asp Uncertain significance Single submitter
- DLST p.Gly147Asp Uncertain significance Single submitter
- DLST p.Ile315Thr Uncertain significance Single submitter
- DLST p.Ile361Val Uncertain significance Single submitter
- DLST p.Pro139Leu Uncertain significance Single submitter
- DLST p.Pro155Leu Uncertain significance Single submitter
- DLST p.Pro159Leu Uncertain significance Single submitter
- DLST p.Pro174Leu Uncertain significance Single submitter
- DLST p.Pro186Leu Uncertain significance Single submitter
- DLST p.Ser189Trp Uncertain significance Single submitter
- DLST p.Ser191Leu Uncertain significance Single submitter
- DLST p.Ser288Leu Uncertain significance Single submitter
- DLST p.Ser3Phe Uncertain significance Single submitter
- DLST p.Ser3Pro Uncertain significance Single submitter
- DLST p.Ser5Cys Uncertain significance Single submitter
- DLST p.Thr138Ile Uncertain significance Single submitter
- DLST p.Thr142Ile Uncertain significance Single submitter
- DLST p.Thr346Ala Uncertain significance Single submitter
- DLST p.Thr72Ala Uncertain significance Single submitter
- DLST p.Tyr314Phe Uncertain significance Single submitter
- DLST p.Val113Leu Uncertain significance Single submitter
- DLST p.Val410Ala Uncertain significance Single submitter
- DLST p.Val418Ala Uncertain significance Single submitter
All DLST variants
Conflicting classifications of pathogenicity 2
- c.147-17G>C Single submitter
- c.976-7C>G Single submitter
Benign 12
- p.Pro204Leu Multiple submitters ⚠
- c.330+19C>T Single submitter
- c.595+12A>G Single submitter
- c.771-10A>G Single submitter
- c.771-13A>G Single submitter
- c.902-19T>C Single submitter
- c.98-15T>C Single submitter
- p.Ala162Val Single submitter ⚠
- p.Gln192= Single submitter
- p.Gly366= Single submitter
- p.Ile50Phe Single submitter
- p.Phe251Tyr Single submitter
Benign/Likely benign 1
- p.Glu261= Multiple submitters
Likely benign 44
- c.1059+14A>G Single submitter
- c.1060-12A>C Single submitter
- c.1060-16T>C Single submitter
- c.1060-18T>C Single submitter
- c.146+11C>G Single submitter
- c.147-17G>A Single submitter
- c.274+17_274+18insTT Single submitter
- c.274+17_274+18insTTT Single submitter
- c.274+17dup Single submitter
- c.274+18A>T Single submitter
- c.274+18del Single submitter
- c.330+11C>G Single submitter
- c.331-15G>A Single submitter
- c.595+7T>C Single submitter
- c.63+14G>A Single submitter
- c.63+16G>T Single submitter
- c.64-18T>C Single submitter
- c.673-11C>T Single submitter
- c.770+10C>G Single submitter
- c.770+11T>C Single submitter
- c.770+12A>G Single submitter
- c.901+10T>C Single submitter
- c.902-16A>G Single submitter
- c.975+19T>G Single submitter
- c.975+20G>A Single submitter
- c.976-6C>T Single submitter
- p.Ala171= Single submitter
- p.Arg10= Single submitter
- p.Arg4= Single submitter
- p.Arg447= Single submitter
- p.Asn243= Single submitter
- p.Asn373= Single submitter
- p.Asp255= Single submitter
- p.Asp303= Single submitter
- p.Gln232= Single submitter
- p.Glu222= Single submitter
- p.Phe12= Single submitter
- p.Phe251= Single submitter
- p.Pro155= Single submitter
- p.Ser35= Single submitter
- p.Val49Ile Single submitter
- c.442+39C>G No assertion criteria DLST-related disorder
- c.-10C>T No assertion criteria DLST-related disorder
- c.-7C>A No assertion criteria DLST-related disorder
Uncertain significance 98
- p.Ala264Val Multiple submitters ⚠
- p.Arg437Cys Multiple submitters ⚠
- p.Arg4Gln Multiple submitters ⚠
- p.Arg6Ser Multiple submitters ⚠
- p.Asn44Ser Multiple submitters ⚠
- p.Asn51Asp Multiple submitters ⚠
- p.Asp304Gly Multiple submitters pheochromocytoma/paraganglioma syndrome 7 ⚠
- p.Gly216Val Multiple submitters pheochromocytoma/paraganglioma syndrome 7 ⚠
- p.Ile106Val Multiple submitters DLST-related disorder ⚠
- p.Leu449Val Multiple submitters ⚠
- p.Lys67Arg Multiple submitters ⚠
- p.Met256Val Multiple submitters ⚠
- p.Pro129Leu Multiple submitters ⚠
- p.Pro164Ser Multiple submitters ⚠
- p.Pro186Ala Multiple submitters ⚠
- p.Ser195Pro Multiple submitters ⚠
- p.Thr346Ile Multiple submitters ⚠
- p.Thr96Ile Multiple submitters ⚠
- p.Val448Ala Multiple submitters ⚠
- c.275-9T>C Single submitter
- c.330+5G>A Single submitter
- c.443-3C>T Single submitter
- c.901+2T>C Single submitter
- c.901+3G>C Single submitter
- c.-4C>G Single submitter
- c.-6G>A Single submitter
- p.Ala119Glu Single submitter ⚠
- p.Ala171Val Single submitter DLST-related disorder ⚠
- p.Ala177Gly Single submitter ⚠
- p.Ala211Pro Single submitter ⚠
- p.Ala235Val Single submitter ⚠
- p.Ala442Val Single submitter ⚠
- p.Ala77Val Single submitter ⚠
- p.Arg10Trp Single submitter ⚠
- p.Arg220Cys Single submitter ⚠
- p.Arg312Lys Single submitter ⚠
- p.Arg325Trp Single submitter ⚠
- p.Arg345Trp Single submitter ⚠
- p.Arg413Gln Single submitter ⚠
- p.Arg425Gln Single submitter ⚠
- p.Arg4Gly Single submitter ⚠
- p.Arg58Cys Single submitter ⚠
- p.Arg6Gly Single submitter ⚠
- p.Asn228Lys Single submitter ⚠
- p.Asn252= Single submitter
- p.Asn357Asp Single submitter ⚠
- p.Asp68Gly Single submitter ⚠
- p.Asp86= Single submitter
- p.Cys24Tyr Single submitter ⚠
- p.Cys37Trp Single submitter ⚠
- p.Gln295Glu Single submitter ⚠
- p.Glu336Asp Single submitter ⚠
- p.Glu352Asp Single submitter ⚠
- p.Gly147Asp Single submitter ⚠
- p.Gly374Glu Single submitter pheochromocytoma/paraganglioma syndrome 7 ⚠
- p.Ile180Leu Single submitter ⚠
- p.Ile180Val Single submitter ⚠
- p.Ile315Thr Single submitter ⚠
- p.Ile361Val Single submitter ⚠
- p.Leu2= Single submitter
- p.Leu26Val Single submitter ⚠
- p.Leu436fs Single submitter
- p.Leu436His Single submitter oxoglutaricaciduria ⚠
- p.Leu450Pro Single submitter ⚠
- p.Lys154Glu Single submitter ⚠
- p.Met230Ile Single submitter ⚠
- p.Met364Thr Single submitter ⚠
- p.Pro139Leu Single submitter ⚠
- p.Pro155Leu Single submitter ⚠
- p.Pro159Leu Single submitter ⚠
- p.Pro174Leu Single submitter ⚠
- p.Pro186Leu Single submitter ⚠
- p.Pro190Ser Single submitter ⚠
- p.Pro25Leu Single submitter ⚠
- p.Pro446Arg Single submitter ⚠
- p.Ser189= Single submitter
- p.Ser189Trp Single submitter ⚠
- p.Ser191Leu Single submitter ⚠
- p.Ser288Leu Single submitter ⚠
- p.Ser372Gly Single submitter ⚠
- p.Ser3Phe Single submitter ⚠
- p.Ser3Pro Single submitter ⚠
- p.Ser56Asn Single submitter ⚠
- p.Ser5Cys Single submitter ⚠
- p.Thr138Ile Single submitter ⚠
- p.Thr142Ile Single submitter ⚠
- p.Thr346Ala Single submitter ⚠
- p.Thr348Ala Single submitter ⚠
- p.Thr383Lys Single submitter ⚠
- p.Thr72Ala Single submitter ⚠
- p.Tyr314Phe Single submitter ⚠
- p.Tyr42Cys Single submitter ⚠
- p.Val113Leu Single submitter ⚠
- p.Val134= Single submitter
- p.Val328Met Single submitter ⚠
- p.Val410Ala Single submitter ⚠
- p.Val418Ala Single submitter ⚠
- p.Arg233Cys No assertion criteria DLST-related disorder ⚠