Sugi Variant

Sugi Variant/MCIDAS

MCIDAS — 221 ClinVar variants

All ClinVar germline MCIDAS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 91 flagged for review →

10 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 5 Conflicting · 7 Benign · 5 Benign/Likely benign · 98 Likely benign · 90 Uncertain significance

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

⚑ Evidence disagreements 91

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.

Predictors agree, ClinVar conflicts 3

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

Predictors lean, ClinVar uncertain 71

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 15

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

All MCIDAS variants

Pathogenic 10

  • c.607-1G>T Single submitter primary ciliary dyskinesia
  • p.Asn221fs Single submitter primary ciliary dyskinesia
  • p.Gln209Ter Single submitter primary ciliary dyskinesia
  • p.Gly50fs Single submitter primary ciliary dyskinesia
  • p.Leu79fs Single submitter primary ciliary dyskinesia
  • p.Lys46fs Single submitter primary ciliary dyskinesia
  • c.717+2T>G No assertion criteria ciliary dyskinesia, primary, 42
  • p.Cys147Ter No assertion criteria ciliary dyskinesia, primary, 42
  • p.Gly366Asp No assertion criteria ciliary dyskinesia, primary, 42
  • p.Ile149Thr No assertion criteria primary ciliary dyskinesia 3 ⚠

Pathogenic/Likely pathogenic 1

  • p.Leu335Ter Multiple submitters primary ciliary dyskinesia

Likely pathogenic 5

  • c.120+2T>C Single submitter primary ciliary dyskinesia
  • c.606+1G>A Single submitter primary ciliary dyskinesia
  • p.Arg381His Single submitter primary ciliary dyskinesia ⚠
  • p.Pro168fs Single submitter ciliary dyskinesia, primary, 42
  • p.Pro384His Single submitter primary ciliary dyskinesia

Conflicting classifications of pathogenicity 5

Benign 7

Benign/Likely benign 5

  • p.Asp276= Multiple submitters primary ciliary dyskinesia
  • p.Gly274Glu Multiple submitters ciliary dyskinesia, primary, 42
  • p.Gly54= Multiple submitters ciliary dyskinesia, primary, 42
  • p.Leu31= Multiple submitters primary ciliary dyskinesia
  • p.Ser354= Multiple submitters primary ciliary dyskinesia

Likely benign 98

  • c.218-13_218-6dup Multiple submitters ciliary dyskinesia, primary, 42
  • c.309+7C>G Multiple submitters primary ciliary dyskinesia
  • c.606+17G>A Multiple submitters primary ciliary dyskinesia
  • c.606+7A>G Multiple submitters primary ciliary dyskinesia
  • p.Ala111= Multiple submitters primary ciliary dyskinesia
  • p.Ala186= Multiple submitters primary ciliary dyskinesia
  • p.Ala70= Multiple submitters primary ciliary dyskinesia
  • p.Arg230= Multiple submitters primary ciliary dyskinesia
  • p.Asp78= Multiple submitters primary ciliary dyskinesia
  • p.Cys147= Multiple submitters primary ciliary dyskinesia
  • p.Gly250= Multiple submitters primary ciliary dyskinesia
  • p.Thr350= Multiple submitters primary ciliary dyskinesia
  • c.120+8G>C Single submitter primary ciliary dyskinesia
  • c.121-19C>T Single submitter primary ciliary dyskinesia
  • c.121-6G>T Single submitter primary ciliary dyskinesia
  • c.121-7C>T Single submitter primary ciliary dyskinesia
  • c.217+17C>T Single submitter primary ciliary dyskinesia
  • c.218-11_218-9del Single submitter primary ciliary dyskinesia
  • c.218-14G>C Single submitter primary ciliary dyskinesia
  • c.218-15G>C Single submitter primary ciliary dyskinesia
  • c.218-16C>G Single submitter primary ciliary dyskinesia
  • c.218-18C>T Single submitter primary ciliary dyskinesia
  • c.218-4G>A Single submitter primary ciliary dyskinesia
  • c.218-7C>A Single submitter primary ciliary dyskinesia
  • c.309+8C>T Single submitter primary ciliary dyskinesia
  • c.309+9C>G Single submitter primary ciliary dyskinesia
  • c.310-11G>T Single submitter primary ciliary dyskinesia
  • c.382+18G>A Single submitter primary ciliary dyskinesia
  • c.382+18G>T Single submitter primary ciliary dyskinesia
  • c.382+7G>A Single submitter primary ciliary dyskinesia
  • c.383-10TCT[3] Single submitter primary ciliary dyskinesia
  • c.383-14C>T Single submitter primary ciliary dyskinesia
  • c.383-18G>A Single submitter primary ciliary dyskinesia
  • c.383-6C>T Single submitter primary ciliary dyskinesia
  • c.383-9C>T Single submitter primary ciliary dyskinesia
  • c.606+16T>G Single submitter primary ciliary dyskinesia
  • c.606+20G>A Single submitter primary ciliary dyskinesia
  • c.607-12C>T Single submitter primary ciliary dyskinesia
  • c.607-18T>C Single submitter primary ciliary dyskinesia
  • c.717+13C>T Single submitter primary ciliary dyskinesia
  • c.717+16G>A Single submitter primary ciliary dyskinesia
  • c.717+20G>A Single submitter primary ciliary dyskinesia
  • c.718-5C>T Single submitter primary ciliary dyskinesia
  • p.Ala100= Single submitter primary ciliary dyskinesia
  • p.Ala101= Single submitter primary ciliary dyskinesia
  • p.Ala192= Single submitter primary ciliary dyskinesia
  • p.Ala196= Single submitter primary ciliary dyskinesia
  • p.Ala253= Single submitter primary ciliary dyskinesia
  • p.Ala294= Single submitter primary ciliary dyskinesia
  • p.Ala310= Single submitter primary ciliary dyskinesia
  • p.Ala73= Single submitter primary ciliary dyskinesia
  • p.Ala8= Single submitter primary ciliary dyskinesia
  • p.Arg163= Single submitter primary ciliary dyskinesia
  • p.Arg247= Single submitter primary ciliary dyskinesia
  • p.Arg28= Single submitter primary ciliary dyskinesia
  • p.Arg298His Single submitter primary ciliary dyskinesia
  • p.Arg351= Single submitter primary ciliary dyskinesia
  • p.Asn189= Single submitter primary ciliary dyskinesia
  • p.Asn375= Single submitter primary ciliary dyskinesia
  • p.Asp112= Single submitter primary ciliary dyskinesia
  • p.Asp174= Single submitter primary ciliary dyskinesia
  • p.Asp281= Single submitter primary ciliary dyskinesia
  • p.Cys85= Single submitter primary ciliary dyskinesia
  • p.Gln108= Single submitter primary ciliary dyskinesia
  • p.Gln166= Single submitter primary ciliary dyskinesia
  • p.Glu267= Single submitter primary ciliary dyskinesia
  • p.Glu344= Single submitter primary ciliary dyskinesia
  • p.Gly140Arg Single submitter Inborn genetic diseases
  • p.Gly317= Single submitter primary ciliary dyskinesia
  • p.Gly50= Single submitter primary ciliary dyskinesia
  • p.Ile214= Single submitter primary ciliary dyskinesia
  • p.Leu115= Single submitter primary ciliary dyskinesia
  • p.Leu193= Single submitter primary ciliary dyskinesia
  • p.Leu203= Single submitter primary ciliary dyskinesia
  • p.Leu241= Single submitter primary ciliary dyskinesia
  • p.Leu25= Single submitter primary ciliary dyskinesia
  • p.Leu335= Single submitter
  • p.Leu74= Single submitter primary ciliary dyskinesia
  • p.Leu79= Single submitter primary ciliary dyskinesia
  • p.Leu99= Single submitter primary ciliary dyskinesia
  • p.Phe41= Single submitter primary ciliary dyskinesia
  • p.Phe48= Single submitter primary ciliary dyskinesia
  • p.Pro151= Single submitter primary ciliary dyskinesia
  • p.Pro158= Single submitter primary ciliary dyskinesia
  • p.Pro19= Single submitter primary ciliary dyskinesia
  • p.Pro26= Single submitter primary ciliary dyskinesia
  • p.Pro34= Single submitter primary ciliary dyskinesia
  • p.Pro94= Single submitter
  • p.Ser102= Single submitter primary ciliary dyskinesia
  • p.Ser150= Single submitter primary ciliary dyskinesia
  • p.Ser333Arg Single submitter Inborn genetic diseases
  • p.Ser347= Single submitter primary ciliary dyskinesia
  • p.Ser349= Single submitter primary ciliary dyskinesia
  • p.Ser58= Single submitter primary ciliary dyskinesia
  • p.Thr206= Single submitter primary ciliary dyskinesia
  • p.Thr52= Single submitter primary ciliary dyskinesia
  • p.Thr76= Single submitter primary ciliary dyskinesia
  • p.Val222= Single submitter

Uncertain significance 90