Is IFT172 p.Ala206= (c.618A>G) pathogenic?

IFT172 p.Ala206= (c.618A>G) is classified Uncertain significance in IFT172 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-10-01). Absent from gnomAD v4.1; Associated with inherited retinal dystrophy.

What condition is associated with IFT172 p.Ala206= (c.618A>G)?

IFT172 p.Ala206= (c.618A>G) is associated with inherited retinal dystrophy (ClinVar).

How common is IFT172 p.Ala206= (c.618A>G) in the general population?

IFT172 p.Ala206= (c.618A>G) is absent from gnomAD v4.1 (gnomAD).

IFT172 p.Ala206=

c.618A>G · rs2466009752 · VCV3028804

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

inherited retinal dystrophy

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -0.44	GERP -5, phastCons 0.062
Overall
CADD	7.205	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: IFT172
Protein: p.Ala206=
Coding: c.618A>G
MANE Select: NM_015662
dbSNP: rs2466009752
Type: single nucleotide variant
Location: chr2:27481213 (GRCh38)
Gene constraint: LOEUF 0.745 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 83.98 · 1 PDB

Full IFT172 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

inherited retinal dystrophy — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

IFT172 p.Ala206Thr Uncertain significance ★ ⚠ same residue
IFT172 p.Ala1041Thr Uncertain significance ★★ ⚠ same condition
IFT172 p.Ala841Val Uncertain significance ★★ ⚠ same condition
IFT172 p.Ala890Thr Uncertain significance ★★ ⚠ same condition
IFT172 p.Arg1189His Uncertain significance ★★ ⚠ same condition
IFT172 p.Arg1208Trp Uncertain significance ★★ ⚠ same condition
IFT172 p.Arg1303Gln Uncertain significance ★★ ⚠ same condition
IFT172 p.Arg1646Gln Uncertain significance ★★ ⚠ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/ift172-p-ala206 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown