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L27=

SynonymousSilentUncertain significanceCytoplasmic · predicted
Synonymous variant · codon at position 27 · N-terminal cytoplasmic (intrinsically disordered) · WFS1 (Wolframin)

Silent — Silent — no amino-acid change

Interactive 3D Structure

Interactive structure
rotate · zoom · variant + 5 Å neighbors
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AlphaFold wild-type wolframin · the variant site near residue 27 (N-terminal cytoplasmic (intrinsically disordered)) is highlighted.

Variant Assessment

Variant type
Synonymous
Schema
Silent
Silent — no amino-acid change
Domain
N-terminal cytoplasmic (intrinsically disordered)
Status
—

Therapeutic Implication · Silent

No amino-acid change (L27 is unchanged): the codon is altered but the protein sequence is identical to wild-type. No structural, stability or AlphaMissense effect applies. Synonymous variants are typically benign unless they affect splicing or regulatory elements; this one is not adjacent to an exon boundary.

Clinical Evidence

ClinVar classificationUncertain significance
Review statuscriteria provided, multiple submitters, no conflicts
Associated conditionsAutosomal dominant nonsyndromic hearing loss 6; Cataract 41; Wolfram syndrome 1; Type 2 diabetes mellitus; Wolfram-like syndrome; WFS1-Related Spectrum Disorders
Population frequency (gnomAD v4)Ultra-rare · AF 0.00014%
cDNA changec.81C>T
Protein consequenceL27=
ClinVar variantNM_006005.3(WFS1):c.81C>T (p.Leu27=)
ClinVar accessionVCV000906236
Last evaluated2021/09/15 00:00

Observed at very low frequency in gnomAD.

Therapeutic Strategy Handoff · prediction

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Full Variant Card

L27= — WFS1 Molecular Atlas Card

Variant type: Synonymous (silent) Codon: position 27 (Leucine, L) — amino acid unchanged Domain context: N-terminal cytoplasmic (intrinsically disordered)

Schema category: Silent — Silent — no amino-acid change

No amino-acid change (L27 is unchanged): the codon is altered but the protein sequence is identical to wild-type. No structural, stability or AlphaMissense effect applies. Synonymous variants are typically benign unless they affect splicing or regulatory elements; this one is not adjacent to an exon boundary.

Clinical evidence

  • Classification: Uncertain significance
  • Review status: criteria provided, multiple submitters, no conflicts
  • Associated conditions: Autosomal dominant nonsyndromic hearing loss 6; Cataract 41; Wolfram syndrome 1; Type 2 diabetes mellitus; Wolfram-like syndrome; WFS1-Related Spectrum Disorders
  • cDNA change: c.81C>T
  • ClinVar accession: VCV000906236
  • Last evaluated: 2021/09/15 00:00
  • Submissions: 1

Card generated by wolfram-atlas-batch (synonymous pipeline) on 2026-06-08T02:50:27.625297Z. WFS1: UniProt O76024, AlphaFold v6. Synonymous variants carry no protein-structural effect.