Is ARHGAP35 p.Val601fs (c.1800_1803del) pathogenic?

ARHGAP35 p.Val601fs (c.18001803del) is classified Likely pathogenic in ARHGAP35 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-04-01). Absent from gnomAD; Associated with Martsolf syndrome 1.

What condition is associated with ARHGAP35 p.Val601fs (c.1800_1803del)?

ARHGAP35 p.Val601fs (c.1800_1803del) is associated with Martsolf syndrome 1 (ClinVar).

How common is ARHGAP35 p.Val601fs (c.1800_1803del) in the general population?

ARHGAP35 p.Val601fs (c.1800_1803del) is absent from gnomAD (gnomAD).

ARHGAP35 p.Val601fs

c.1800_1803del · rs2514159829 · VCV1679924

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Martsolf syndrome 1

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 2 of 7
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.084	GERP -0.23, phastCons 0.93

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: ARHGAP35
Protein: p.Val601fs
Coding: c.1800_1803del
MANE Select: NM_004491
dbSNP: rs2514159829
Type: Deletion
Location: chr19:46920473 (GRCh38)
Gene constraint: LOEUF 0.204 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 74.08 · 6 PDB
Residue 601: the pg1 pseudogtpase domain

Full ARHGAP35 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Martsolf syndrome 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

ARHGAP35 p.Asn173fs Likely pathogenic ★ same condition
ARHGAP35 p.Tyr116fs Likely pathogenic ★ same condition
ARHGAP35 p.Arg109Ter Likely pathogenic ★ same condition
ARHGAP35 p.Glu1190fs Likely pathogenic ★ same condition
ARHGAP35 p.Lys118Ter Likely pathogenic ★ same condition
ARHGAP35 p.Tyr855Ter Likely pathogenic ★ same condition
ARHGAP35 p.Val1095_Lys1096delinsTer Likely pathogenic ★ same condition
ARHGAP35 p.Arg1284Trp Conflicting classifications of pathogenicity ★ ⚠ 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/arhgap35-p-val601fs (accessed [today's date]).

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