Is DMD p.Pro1190= (c.3570A>G) pathogenic?

DMD p.Pro1190= (c.3570A>G) is classified Likely benign in DMD (ClinVar, Single submitter, 1 submitter; last evaluated 2020-02-02). Very rare (popmax 0.000112%, nfe); Associated with Cardiovascular phenotype.

What condition is associated with DMD p.Pro1190= (c.3570A>G)?

DMD p.Pro1190= (c.3570A>G) is associated with Cardiovascular phenotype (ClinVar).

How common is DMD p.Pro1190= (c.3570A>G) in the general population?

DMD p.Pro1190= (c.3570A>G) is very rare (popmax 0.000112%, nfe) (gnomAD).

DMD p.Pro1190=

c.3570A>G · rs2524366195 · VCV1732791

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.000112%, nfe)

Conditions

Cardiovascular phenotype

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP -0.98	GERP -5.2, phastCons 0.003
Overall
CADD	6.554	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.000112% European (non-Finnish) · 1/889,903 alleles

Overall 8.34e-05% 1/1,199,321 alleles · very rare exomes 1/1,088,625 · genomes 0/110,696 · joint denominator

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.Pro1190=
Coding: c.3570A>G
MANE Select: NM_004006
dbSNP: rs2524366195
Type: single nucleotide variant
Location: chrX:32454695 (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

Similar variants

DMD p.Pro1190Ala Uncertain significance ★ same residue
DMD p.Pro1190Ser Uncertain significance ★ same residue
DMD c.2804-2A>C Pathogenic/Likely pathogenic ★★ same condition
DMD c.31+1G>C Pathogenic ★★ same condition
DMD c.3432+2036A>G Pathogenic/Likely pathogenic ★★ same condition
DMD c.3433-1G>A Pathogenic ★★ same condition
DMD c.357+1G>T Pathogenic ★★ same condition
DMD c.9974+1G>A Pathogenic/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/dmd-p-pro1190 (accessed [today's date]).

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