Is AIFM1 p.Ser202= (c.606C>T) pathogenic?

AIFM1 p.Ser202= (c.606C>T) is classified Uncertain significance in AIFM1 (ClinVar, Single submitter, 1 submitter; last evaluated 2019-09-12). Absent from gnomAD v4.1; Associated with Charcot-Marie-Tooth Neuropathy X.

What condition is associated with AIFM1 p.Ser202= (c.606C>T)?

AIFM1 p.Ser202= (c.606C>T) is associated with Charcot-Marie-Tooth Neuropathy X, combined oxidative phosphorylation deficiency (ClinVar).

How common is AIFM1 p.Ser202= (c.606C>T) in the general population?

AIFM1 p.Ser202= (c.606C>T) is absent from gnomAD v4.1 (gnomAD).

AIFM1 p.Ser202=

c.606C>T · rs2030721376 · VCV935690

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

Charcot-Marie-Tooth Neuropathy X

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	<0.2	all four deltas below 0.2 · G>C here scores Δ0.22 · evaluated, not missing
Constraint at this position
Conservation	phyloP 3.3	GERP 0.44, phastCons 1
Overall
CADD	16.31	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: AIFM1
Protein: p.Ser202=
Coding: c.606C>T
MANE Select: NM_004208
dbSNP: rs2030721376
Type: single nucleotide variant
Location: chrX:130145569 (GRCh38)
Structure: AlphaFold pLDDT 85.97 · 26 PDB
Residue 202: the 'fad-dependent oxidoreductase' region; a β-strand

Full AIFM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Charcot-Marie-Tooth Neuropathy X — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: combined oxidative phosphorylation deficiency

Similar variants

AIFM1 p.Arg422Gln Pathogenic/Likely pathogenic ★★ ⚠ same condition
AIFM1 p.Arg422Trp Pathogenic/Likely pathogenic ★★ same condition
AIFM1 p.Met340Thr Pathogenic/Likely pathogenic ★★ same condition
AIFM1 c.1448+5T>C Uncertain significance ★★ same condition
AIFM1 c.782-3C>T Uncertain significance ★★ same condition
AIFM1 p.Ala117Val Uncertain significance ★★ ⚠ same condition
AIFM1 p.Ala80Thr Uncertain significance ★★ ⚠ same condition
AIFM1 p.Arg151Gln 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/aifm1-p-ser202 (accessed [today's date]).

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