Is ACD p.Ala68Val (c.203C>T) pathogenic?

ACD p.Ala68Val (c.203C>T) is classified Uncertain significance in ACD (ClinVar, Single submitter, 1 submitter; last evaluated 2021-07-14). Very rare (popmax 0.00133%, afr); Associated with Inborn genetic diseases.

What condition is associated with ACD p.Ala68Val (c.203C>T)?

ACD p.Ala68Val (c.203C>T) is associated with Inborn genetic diseases (ClinVar).

How common is ACD p.Ala68Val (c.203C>T) in the general population?

ACD p.Ala68Val (c.203C>T) is very rare (popmax 0.00133%, afr) (gnomAD).

ACD p.Ala68Val

c.203C>T · rs2543612211 · VCV1784876

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00133%, afr)

Conditions

Inborn genetic diseases

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.047	moderately benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 2.4	GERP 0.27, phastCons 0.16
Overall
CADD	11.72	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00133% African / African-American · 1/75,056 alleles

Overall 0.000137% 2/1,459,784 alleles · very rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.00133%	75,056
European (non-Finnish)	8.48e-05%	1,179,732

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: ACD
Protein: p.Ala68Val
Coding: c.203C>T
MANE Select: NM_001082486
dbSNP: rs2543612211
Type: single nucleotide variant
Location: chr16:67660276 (GRCh38)
Gene constraint: LOEUF 0.921 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 63.09 · 28 PDB
Residue 68: a β-strand

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

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

ACD p.Arg68Gly Uncertain significance ★ ⚠ same residue
ACD p.Ala68= Likely benign ★ same residue
ACD p.Arg68Leu Uncertain significance ★★ ⚠ same residue
ACD c.-20C>T Uncertain significance ★★ same condition
ACD c.-26T>G Uncertain significance ★★ same condition
ACD c.-29C>A Uncertain significance ★★ same condition
ACD c.-30C>T Uncertain significance ★★ same condition
ACD c.-35C>T 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/acd-p-ala68val (accessed [today's date]).

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