Is AMPD1 p.Gly78fs (c.231_243del) pathogenic?

AMPD1 p.Gly78fs (c.231243del) is classified Uncertain significance in AMPD1 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-09-14). Absent from gnomAD; Associated with myopathy due to myoadenylate deaminase deficiency.

What condition is associated with AMPD1 p.Gly78fs (c.231_243del)?

AMPD1 p.Gly78fs (c.231_243del) is associated with myopathy due to myoadenylate deaminase deficiency (ClinVar).

How common is AMPD1 p.Gly78fs (c.231_243del) in the general population?

AMPD1 p.Gly78fs (c.231_243del) is absent from gnomAD (gnomAD).

AMPD1 p.Gly78fs

c.231_243del · rs2526380206 · VCV2009254

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

myopathy due to myoadenylate deaminase deficiency

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 4 of 16
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.11	GERP -3

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: AMPD1
Protein: p.Gly78fs
Coding: c.231_243del
MANE Select: NM_000036
dbSNP: rs2526380206
Type: Deletion
Location: chr1:114686883 (GRCh38)
Gene constraint: LOEUF 1.036 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 86.84

Full AMPD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

myopathy due to myoadenylate deaminase deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

AMPD1 c.382-6del Benign/Likely benign ★★ same condition
AMPD1 p.Phe41fs Likely pathogenic ★ same condition
AMPD1 c.216-2del Uncertain significance ★ same condition
AMPD1 c.35-7_35-4del Conflicting classifications of pathogenicity ★ same condition
AMPD1 c.548-3_548-2del Uncertain significance ★ same condition
AMPD1 c.767+3_767+6del Uncertain significance ★ same condition
AMPD1 p.Gly78Glu Uncertain significance ★ ⚠ same residue
AMPD1 p.Ile135fs 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/ampd1-p-gly78fs (accessed [today's date]).

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