Sugi Variant

Sugi Variant/SNTA1

SNTA1 — 548 ClinVar variants

All ClinVar germline SNTA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 265 flagged for review →

47 Conflicting · 13 Benign · 15 Benign/Likely benign · 189 Likely benign · 284 Uncertain significance

Full SNTA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 265

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 31

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

Predictors lean, ClinVar uncertain 178

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 178

Predictors split 56

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

All SNTA1 variants

Conflicting classifications of pathogenicity 47

Benign 13

Benign/Likely benign 15

  • c.1238-11C>T Multiple submitters long QT syndrome
  • c.1426-5T>C Multiple submitters Cardiovascular phenotype
  • c.311-20C>T Multiple submitters long QT syndrome
  • c.702-7C>G Multiple submitters long QT syndrome
  • c.909+17G>T Multiple submitters long QT syndrome
  • c.-96G>A Multiple submitters long QT syndrome 12
  • c.*343G>A Multiple submitters long QT syndrome 12
  • p.Ala496= Multiple submitters Cardiovascular phenotype
  • p.Arg106Gln Multiple submitters Cardiovascular phenotype
  • p.Arg331= Multiple submitters long QT syndrome
  • p.Asn269= Multiple submitters Cardiovascular phenotype
  • p.Gly104= Multiple submitters Cardiovascular phenotype
  • p.Leu479= Multiple submitters Cardiovascular phenotype
  • p.Phe450= Multiple submitters Cardiovascular phenotype
  • p.Val185= Multiple submitters Cardiovascular phenotype

Likely benign 189

  • c.1425+18del Multiple submitters long QT syndrome
  • c.310+12_310+27del Multiple submitters long QT syndrome
  • c.310+19G>A Multiple submitters long QT syndrome
  • c.311-6G>A Multiple submitters long QT syndrome
  • c.496+81G>T Multiple submitters
  • p.Ala19= Multiple submitters long QT syndrome
  • p.Ala257= Multiple submitters Cardiovascular phenotype
  • p.Ala403= Multiple submitters long QT syndrome
  • p.Ala404= Multiple submitters long QT syndrome
  • p.Ala67= Multiple submitters Cardiovascular phenotype
  • p.Arg250= Multiple submitters long QT syndrome
  • p.Arg5= Multiple submitters Cardiovascular phenotype
  • p.Asp149= Multiple submitters Cardiovascular phenotype
  • p.Asp171= Multiple submitters Cardiovascular phenotype
  • p.Asp459= Multiple submitters Cardiovascular phenotype
  • p.Glu58Gly Multiple submitters Cardiovascular phenotype
  • p.Glu60= Multiple submitters Cardiovascular phenotype
  • p.Gly54= Multiple submitters Cardiovascular phenotype
  • p.Gly73= Multiple submitters long QT syndrome
  • p.His374= Multiple submitters long QT syndrome
  • p.His480= Multiple submitters Cardiovascular phenotype
  • p.Ile344= Multiple submitters Cardiovascular phenotype
  • p.Ile427= Multiple submitters Cardiovascular phenotype
  • p.Leu113= Multiple submitters long QT syndrome
  • p.Leu279= Multiple submitters long QT syndrome
  • p.Leu282= Multiple submitters long QT syndrome
  • p.Leu283= Multiple submitters long QT syndrome
  • p.Leu368= Multiple submitters Cardiovascular phenotype
  • p.Leu501= Multiple submitters long QT syndrome
  • p.Leu77= Multiple submitters Cardiovascular phenotype
  • p.Pro174= Multiple submitters Cardiovascular phenotype
  • p.Pro233= Multiple submitters Cardiovascular phenotype
  • p.Pro53= Multiple submitters Cardiovascular phenotype
  • p.Pro56= Multiple submitters Cardiovascular phenotype
  • p.Pro70= Multiple submitters Cardiovascular phenotype
  • p.Ser210= Multiple submitters long QT syndrome
  • p.Ser223= Multiple submitters long QT syndrome
  • p.Ser240= Multiple submitters Cardiovascular phenotype
  • p.Ser259= Multiple submitters Cardiovascular phenotype
  • p.Ser462= Multiple submitters Cardiovascular phenotype
  • p.Ser481= Multiple submitters Cardiovascular phenotype
  • p.Ser495= Multiple submitters Cardiovascular phenotype
  • p.Ter506= Multiple submitters Cardiovascular phenotype
  • p.Thr180= Multiple submitters Cardiovascular phenotype
  • p.Thr272= Multiple submitters Cardiovascular phenotype
  • p.Thr272Met Multiple submitters long QT syndrome
  • p.Thr415= Multiple submitters Cardiovascular phenotype
  • p.Tyr324= Multiple submitters Cardiovascular phenotype
  • p.Tyr360= Multiple submitters long QT syndrome
  • c.1040+11G>A Single submitter long QT syndrome
  • c.1040+175G>A Single submitter
  • c.1041-11C>G Single submitter long QT syndrome
  • c.1041-20C>T Single submitter long QT syndrome
  • c.1041-4C>T Single submitter Cardiovascular phenotype
  • c.1237+20G>A Single submitter long QT syndrome
  • c.1238-13G>A Single submitter long QT syndrome
  • c.1238-9dup Single submitter long QT syndrome
  • c.1425+15G>A Single submitter long QT syndrome
  • c.1425+16C>T Single submitter long QT syndrome
  • c.1426-17C>T Single submitter long QT syndrome
  • c.1426-21_1426-20del Single submitter long QT syndrome
  • c.1426-7C>T Single submitter long QT syndrome
  • c.1426-8C>T Single submitter long QT syndrome
  • c.310+10G>C Single submitter long QT syndrome
  • c.310+17G>A Single submitter long QT syndrome
  • c.310+9G>A Single submitter long QT syndrome
  • c.311-15_311-13del Single submitter long QT syndrome
  • c.311-16T>G Single submitter long QT syndrome
  • c.496+111G>A Single submitter
  • c.496+12C>T Single submitter long QT syndrome
  • c.496+13G>A Single submitter long QT syndrome
  • c.496+17C>T Single submitter
  • c.497-14TC[4] Single submitter long QT syndrome
  • c.701+10G>C Single submitter long QT syndrome
  • c.701+6G>A Single submitter
  • c.702-13T>A Single submitter long QT syndrome
  • c.702-13T>C Single submitter long QT syndrome
  • c.702-7C>A Single submitter long QT syndrome
  • c.702-8G>A Single submitter long QT syndrome
  • c.910-10T>A Single submitter
  • c.910-11G>T Single submitter long QT syndrome
  • c.910-9del Single submitter long QT syndrome
  • c.-32G>A Single submitter
  • c.-382C>A Single submitter
  • c.*14C>T Single submitter
  • p.Ala122= Single submitter long QT syndrome
  • p.Ala123Gly Single submitter long QT syndrome 2
  • p.Ala146= Single submitter long QT syndrome
  • p.Ala151= Single submitter Cardiovascular phenotype
  • p.Ala261= Single submitter long QT syndrome
  • p.Ala266= Single submitter long QT syndrome
  • p.Ala367= Single submitter Cardiovascular phenotype
  • p.Ala435= Single submitter Cardiovascular phenotype
  • p.Ala45= Single submitter Cardiovascular phenotype
  • p.Ala55= Single submitter Cardiovascular phenotype
  • p.Ala68= Single submitter Cardiovascular phenotype
  • p.Ala72= Single submitter Cardiovascular phenotype
  • p.Ala80= Single submitter long QT syndrome
  • p.Arg197Gln Single submitter Cardiovascular phenotype
  • p.Arg234= Single submitter Cardiovascular phenotype
  • p.Arg274= Single submitter long QT syndrome
  • p.Arg347= Single submitter Cardiovascular phenotype
  • p.Arg373= Single submitter Cardiovascular phenotype
  • p.Arg394= Single submitter Cardiovascular phenotype
  • p.Asn229Thr Single submitter Cardiovascular phenotype
  • p.Asn417= Single submitter Cardiovascular phenotype
  • p.Asp245= Single submitter Cardiovascular phenotype
  • p.Asp293= Single submitter long QT syndrome
  • p.Asp48Glu Single submitter Cardiovascular phenotype
  • p.Cys239= Single submitter Cardiovascular phenotype
  • p.Gln153= Single submitter long QT syndrome
  • p.Gln280= Single submitter long QT syndrome
  • p.Gln476= Single submitter long QT syndrome
  • p.Gln59Pro Single submitter Cardiovascular phenotype
  • p.Glu278= Single submitter Cardiovascular phenotype
  • p.Glu388= Single submitter long QT syndrome
  • p.Glu451= Single submitter Cardiovascular phenotype
  • p.Glu69= Single submitter Cardiovascular phenotype
  • p.Glu69Asp Single submitter
  • p.Gly181= Single submitter Cardiovascular phenotype
  • p.Gly181Ser Single submitter Cardiovascular phenotype
  • p.Gly352= Single submitter long QT syndrome
  • p.Gly371= Single submitter Cardiovascular phenotype
  • p.Gly399= Single submitter long QT syndrome
  • p.Gly50= Single submitter long QT syndrome
  • p.Gly502= Single submitter Cardiovascular phenotype
  • p.Gly66= Single submitter long QT syndrome
  • p.Gly71= Single submitter Cardiovascular phenotype
  • p.Gly73Ala Single submitter Cardiovascular phenotype
  • p.His350= Single submitter Cardiovascular phenotype
  • p.His426= Single submitter Cardiovascular phenotype
  • p.Ile297= Single submitter Cardiovascular phenotype
  • p.Leu12= Single submitter long QT syndrome
  • p.Leu121= Single submitter Cardiovascular phenotype
  • p.Leu247Val Single submitter Cardiovascular phenotype
  • p.Leu313= Single submitter long QT syndrome
  • p.Leu323= Single submitter long QT syndrome
  • p.Leu325= Single submitter long QT syndrome
  • p.Leu325Ser Single submitter Cardiovascular phenotype
  • p.Leu327= Single submitter long QT syndrome
  • p.Leu343= Single submitter Cardiovascular phenotype
  • p.Leu380= Single submitter long QT syndrome
  • p.Leu396= Single submitter Cardiovascular phenotype
  • p.Leu423= Single submitter long QT syndrome
  • p.Leu445= Single submitter Cardiovascular phenotype
  • p.Leu446= Single submitter long QT syndrome
  • p.Leu453= Single submitter Cardiovascular phenotype
  • p.Leu466= Single submitter Cardiovascular phenotype
  • p.Leu494= Single submitter long QT syndrome
  • p.Leu81= Single submitter Cardiovascular phenotype
  • p.Lys213= Single submitter Cardiovascular phenotype
  • p.Lys252= Single submitter long QT syndrome
  • p.Lys295= Single submitter Cardiovascular phenotype
  • p.Phe118= Single submitter long QT syndrome
  • p.Phe130= Single submitter long QT syndrome
  • p.Phe468= Single submitter long QT syndrome
  • p.Pro194= Single submitter long QT syndrome
  • p.Pro228= Single submitter long QT syndrome
  • p.Pro273= Single submitter Cardiovascular phenotype
  • p.Pro311= Single submitter Cardiovascular phenotype
  • p.Pro328= Single submitter long QT syndrome
  • p.Pro337= Single submitter long QT syndrome
  • p.Pro353= Single submitter long QT syndrome
  • p.Pro386= Single submitter long QT syndrome
  • p.Pro49= Single submitter Cardiovascular phenotype
  • p.Pro51= Single submitter Cardiovascular phenotype
  • p.Pro74= Single submitter long QT syndrome
  • p.Pro75= Single submitter long QT syndrome
  • p.Pro78= Single submitter Cardiovascular phenotype
  • p.Ser184= Single submitter
  • p.Ser189= Single submitter Cardiovascular phenotype
  • p.Ser256= Single submitter Cardiovascular phenotype
  • p.Ser351= Single submitter long QT syndrome
  • p.Ser357= Single submitter Cardiovascular phenotype
  • p.Ser411= Single submitter Cardiovascular phenotype
  • p.Ser424= Single submitter Cardiovascular phenotype
  • p.Thr147= Single submitter long QT syndrome
  • p.Thr205= Single submitter long QT syndrome
  • p.Thr246Ser Single submitter Cardiovascular phenotype
  • p.Thr346= Single submitter long QT syndrome
  • p.Thr372= Single submitter Cardiovascular phenotype
  • p.Thr499= Single submitter long QT syndrome
  • p.Val138= Single submitter long QT syndrome
  • p.Val152= Single submitter Cardiovascular phenotype
  • p.Val166= Single submitter long QT syndrome
  • p.Val349= Single submitter long QT syndrome
  • p.Val397= Single submitter long QT syndrome
  • p.Val410= Single submitter Cardiovascular phenotype
  • p.Val498= Single submitter Cardiovascular phenotype

Uncertain significance 284