Sugi Variant

Sugi Variant/STRA6

STRA6 — 347 ClinVar variants

All ClinVar germline STRA6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 134 flagged for review →

22 Pathogenic · 1 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 17 Conflicting · 44 Benign · 17 Benign/Likely benign · 72 Likely benign · 162 Uncertain significance

Full STRA6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 134

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 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 7

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

Predictors lean, ClinVar uncertain 99

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

Predictors split 25

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

All STRA6 variants

Pathogenic 22

  • p.Arg532Ter Multiple submitters microphthalmia, syndromic 9
  • p.Asn462fs Multiple submitters
  • p.Thr644Met Multiple submitters microphthalmia, syndromic 9 ⚠
  • c.1301-6T>A Single submitter microphthalmia, syndromic 9
  • p.Arg638Pro Single submitter Anophthalmia-microphthalmia syndrome
  • p.Asp560fs Single submitter microphthalmia, syndromic 9
  • p.Gln438Arg Single submitter Anophthalmia-microphthalmia syndrome ⚠
  • p.Gly304Lys Single submitter microphthalmia, syndromic 9
  • p.Leu116fs Single submitter microphthalmia, syndromic 9
  • p.Leu161fs Single submitter microphthalmia, syndromic 9
  • p.Pro195fs Single submitter
  • p.Pro579Ala Single submitter Anophthalmia-microphthalmia syndrome ⚠
  • p.Ser22fs Single submitter microphthalmia, syndromic 9
  • p.Trp146Ter Single submitter microphthalmia, syndromic 9
  • p.Val329fs Single submitter microphthalmia, syndromic 9
  • c.1521-1G>A No assertion criteria microphthalmia, syndromic 9
  • p.Asp17fs No assertion criteria microphthalmia, syndromic 9
  • p.Asp560His No assertion criteria microphthalmia, syndromic 9
  • p.Gly13fs No assertion criteria microphthalmia, syndromic 9
  • p.Gly50fs No assertion criteria microphthalmia, syndromic 9
  • p.Pro90Leu No assertion criteria microphthalmia, syndromic 9 ⚠
  • p.Trp23Ter No assertion criteria microphthalmia, syndromic 9

Pathogenic/Likely pathogenic 1

  • c.267-1G>T Multiple submitters microphthalmia, syndromic 9

Likely pathogenic 12

Conflicting classifications of pathogenicity 17

  • c.1685-5C>G Single submitter microphthalmia, syndromic 9
  • c.597+7G>A Single submitter microphthalmia, syndromic 9
  • c.720+15C>T Single submitter microphthalmia, syndromic 9
  • p.Ala130Thr Single submitter microphthalmia, syndromic 9 ⚠
  • p.Arg276Cys Single submitter microphthalmia, syndromic 9 ⚠
  • p.Arg414= Single submitter microphthalmia, syndromic 9
  • p.Arg655His Single submitter microphthalmia, syndromic 9 ⚠
  • p.Asp122= Single submitter microphthalmia, syndromic 9
  • p.Cys80Tyr Single submitter microphthalmia, syndromic 9 ⚠
  • p.Leu129= Single submitter microphthalmia, syndromic 9
  • p.Pro119= Single submitter microphthalmia, syndromic 9
  • p.Pro293Leu Single submitter microphthalmia, syndromic 9 ⚠
  • p.Thr301Ile Single submitter microphthalmia, syndromic 9 ⚠
  • p.Thr331= Single submitter microphthalmia, syndromic 9
  • p.Thr447= Single submitter microphthalmia, syndromic 9
  • p.Val325Leu Single submitter microphthalmia, syndromic 9 ⚠
  • p.Val522= Single submitter microphthalmia, syndromic 9

Benign 44

Benign/Likely benign 17

  • c.1167-10C>G Multiple submitters microphthalmia, syndromic 9
  • c.1301-12C>T Multiple submitters microphthalmia, syndromic 9
  • c.1418+10del Multiple submitters microphthalmia, syndromic 9
  • c.1840+12C>T Multiple submitters microphthalmia, syndromic 9
  • c.430+24T>A Multiple submitters
  • c.431-16T>C Multiple submitters microphthalmia, syndromic 9
  • c.597+9T>G Multiple submitters microphthalmia, syndromic 9
  • c.*75C>A Multiple submitters microphthalmia, syndromic 9
  • p.Ala591Thr Multiple submitters microphthalmia, syndromic 9
  • p.Arg408Gln Multiple submitters microphthalmia, syndromic 9
  • p.Gly635Ser Multiple submitters microphthalmia, syndromic 9
  • p.Ile342= Multiple submitters microphthalmia, syndromic 9
  • p.Leu111= Multiple submitters microphthalmia, syndromic 9
  • p.Met455Ile Multiple submitters microphthalmia, syndromic 9
  • p.Met527Ile Multiple submitters microphthalmia, syndromic 9
  • p.Ser472= Multiple submitters microphthalmia, syndromic 9
  • p.Val316Met Multiple submitters microphthalmia, syndromic 9

Likely benign 72

Uncertain significance 162