Is DMD p.Ala608Val (c.1823C>T) pathogenic?

DMD p.Ala608Val (c.1823C>T) is classified Conflicting classifications of pathogenicity in DMD (ClinVar, Conflicting submitters, 5 submitters; last evaluated 2026-04-08). AlphaMissense: likely benign (0.0912); Very rare (popmax 0.00594%, eas); Associated with Cardiovascular phenotype.

What condition is associated with DMD p.Ala608Val (c.1823C>T)?

DMD p.Ala608Val (c.1823C>T) is associated with Cardiovascular phenotype, Duchenne muscular dystrophy (ClinVar).

How common is DMD p.Ala608Val (c.1823C>T) in the general population?

DMD p.Ala608Val (c.1823C>T) is very rare (popmax 0.00594%, eas) (gnomAD).

What do computational predictors say about DMD p.Ala608Val (c.1823C>T)?

AlphaMissense predicts likely benign (score 0.0912) — an in-silico prediction, not a clinical call.

DMD p.Ala608Val

c.1823C>T · rs189896732 · VCV201744

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 5 submitters

AlphaMissense

likely benign

0.0912 · ACMG-weighted

gnomAD v4.1

Rare

very rare (popmax 0.00594%, eas)

Missense predictors

0/2 damaging

AlphaMissense, REVEL

Conditions

Cardiovascular phenotype

Computational evidence

Protein change
AlphaMissense	0.0912	likely benign
REVEL	0.027	moderately benign-leaning
⇒ AlphaMissense and REVEL both call this tolerated.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 5.3	GERP -0.017, phastCons 1
Regional constraint	o/e 1.36	unconstrained · MANE · 1,863 kb · p 2.4e-62 · regional, not allelic
Overall
CADD	20.6	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00594% East Asian · 2/33,697 alleles

Filtering AF 0.000983% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000368%

Overall 0.00108% 13/1,207,636 alleles · very rare

Ancestry group	Frequency	1 in
East Asiangrpmax	0.00594%	16,848
Remaining individualsnot grpmax-eligible	0.00421%	23,749
African / African-American	0.0035%	28,612
South Asian	0.00176%	56,698
European (non-Finnish)	0.000672%	148,912

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: DMD
Protein: p.Ala608Val
Coding: c.1823C>T
MANE Select: NM_004006
dbSNP: rs189896732
Type: single nucleotide variant
Location: chrX:32565871 (GRCh38)

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

Disease context

Cardiovascular phenotype — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: Duchenne muscular dystrophy

Similar variants

DMD p.Ala608= Likely benign ★★ same residue
DMD p.Ala608Glu Uncertain significance ★ ⚠ same residue
DMD c.10086+1G>A Pathogenic ★★ same condition
DMD c.10086+1G>T Pathogenic ★★ same condition
DMD c.10086+2T>C Pathogenic ★★ same condition
DMD c.10087-2A>G Pathogenic/Likely pathogenic ★★ same condition
DMD c.10223+1G>A Pathogenic ★★ same condition
DMD c.10223+1G>C 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/dmd-p-ala608val (accessed [today's date]).

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