Is RAB7A p.Ser111fs (c.331del) pathogenic?

RAB7A p.Ser111fs (c.331del) is classified Uncertain significance in RAB7A (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-08-14). No gnomAD frequency available for this variant; Associated with Charcot-Marie-Tooth disease.

What condition is associated with RAB7A p.Ser111fs (c.331del)?

RAB7A p.Ser111fs (c.331del) is associated with Charcot-Marie-Tooth disease (ClinVar).

How common is RAB7A p.Ser111fs (c.331del) in the general population?

RAB7A p.Ser111fs (c.331del) is no gnomAD frequency available for this variant (gnomAD).

RAB7A p.Ser111fs

c.331del · rs1576303712 · VCV694965

Uncertain significance No assertion criteria

Classification

Uncertain significance

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Charcot-Marie-Tooth disease

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a LoF-intolerant gene
NMD	predicted	premature termination codon in exon 4 of 6
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 1.1	phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: RAB7A
Protein: p.Ser111fs
Coding: c.331del
MANE Select: NM_004637
dbSNP: rs1576303712
Type: Deletion
Location: chr3:128806522 (GRCh38)
Gene constraint: LOEUF 0.242 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 88.98 · 10 PDB

Full RAB7A gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

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

Similar variants

RAB7A p.Ser111Gly Uncertain significance ★ ⚠ same residue
RAB7A p.Asn161Ile Pathogenic ★★ same condition
RAB7A p.Leu129Phe Pathogenic ★★ same condition
RAB7A p.Val162Met Pathogenic ★★ same condition
RAB7A c.180+9A>G Likely benign ★★ same condition
RAB7A c.400-17C>G Likely benign ★★ same condition
RAB7A c.529-11T>G Likely benign ★★ same condition
RAB7A p.Ala141= Benign/Likely benign ★★ 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/rab7a-p-ser111fs (accessed [today's date]).

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