Is ACTL6B p.Met210fs (c.628del) pathogenic?

ACTL6B p.Met210fs (c.628del) is classified Pathogenic in ACTL6B (ClinVar, No assertion criteria, 1 submitter). Absent from gnomAD; Associated with developmental and epileptic encephalopathy, 76.

What condition is associated with ACTL6B p.Met210fs (c.628del)?

ACTL6B p.Met210fs (c.628del) is associated with developmental and epileptic encephalopathy, 76 (ClinVar).

How common is ACTL6B p.Met210fs (c.628del) in the general population?

ACTL6B p.Met210fs (c.628del) is absent from gnomAD (gnomAD).

ACTL6B p.Met210fs

c.628del · rs2486160760 · VCV2500141

Pathogenic No assertion criteria

Classification

Pathogenic

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

developmental and epileptic encephalopathy, 76

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 7 of 14
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 11	GERP 5, 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: ACTL6B
Protein: p.Met210fs
Coding: c.628del
MANE Select: NM_016188
dbSNP: rs2486160760
Type: Deletion
Location: chr7:100648597 (GRCh38)
Gene constraint: LOEUF 0.954 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 91.52
Residue 210: a UniProt-annotated variant site (in dee76)

Full ACTL6B gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

developmental and epileptic encephalopathy, 76 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

ACTL6B p.Gly50fs Pathogenic/Likely pathogenic ★★ same condition
ACTL6B p.Ser409fs Likely pathogenic ★ same condition
ACTL6B p.Asp77fs Uncertain significance ★ same condition
ACTL6B p.Pro232fs Conflicting classifications of pathogenicity ★ same condition
ACTL6B p.Ter427AspextTer? Pathogenic/Likely pathogenic same condition
ACTL6B p.Arg97Ter Likely pathogenic ★★ same condition
ACTL6B p.Gln186Ter Pathogenic/Likely pathogenic ★★ same condition
ACTL6B p.Gln278Ter Likely pathogenic ★★ 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/actl6b-p-met210fs (accessed [today's date]).

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