Is AMH p.Arg191Ter (c.571C>T) pathogenic?

AMH p.Arg191Ter (c.571C>T) is classified Pathogenic in AMH (ClinVar, Single submitter, 2 submitters; last evaluated 2024-10-15). Very rare (popmax 0.00273%, afr); Associated with persistent Mullerian duct syndrome.

What condition is associated with AMH p.Arg191Ter (c.571C>T)?

AMH p.Arg191Ter (c.571C>T) is associated with persistent Mullerian duct syndrome (ClinVar).

How common is AMH p.Arg191Ter (c.571C>T) in the general population?

AMH p.Arg191Ter (c.571C>T) is very rare (popmax 0.00273%, afr) (gnomAD).

AMH p.Arg191Ter

c.571C>T · rs104894666 · VCV8624

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 2 submitters

Consequence

nonsense (stop-gain)

predicted LoF

gnomAD v4.1

Rare

very rare (popmax 0.00273%, afr)

Conditions

persistent Mullerian duct syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	nonsense (stop-gain)	predicted loss-of-function
NMD	predicted	premature termination codon in exon 3 of 5
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Pangolin	Δ0.21	loss · gain 0.03 · not in the SpliceAI release · independent
Constraint at this position
Conservation	phyloP -0.69	GERP -2
Overall
CADD	34.0	PHRED · no single calibrated threshold — expert panels disagree

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00273% African / African-American · 2/73,136 alleles

Filtering AF 0.000454% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00017%

Overall 0.000585% 9/1,539,450 alleles · very rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.00273%	36,568
East Asian	0.00244%	40,978
South Asian	0.00119%	84,018
European (non-Finnish)	0.000436%	229,427

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: AMH
Protein: p.Arg191Ter
Coding: c.571C>T
MANE Select: NM_000479
dbSNP: rs104894666
Type: single nucleotide variant
Location: chr19:2250667 (GRCh38)
Gene constraint: LOEUF 1.954 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 69.40 · 3 PDB

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

Disease context

persistent Mullerian duct syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

AMH p.Arg40Ter Pathogenic/Likely pathogenic ★★ same condition
AMH p.Gln217Ter Pathogenic/Likely pathogenic ★★ same condition
AMH p.Glu389Ter Pathogenic/Likely pathogenic ★★ same condition
AMH p.Gly101Arg Likely pathogenic ★★ same condition
AMH p.Pro151Ser Pathogenic ★★ ⚠ same condition
AMH p.Pro398Leu Uncertain significance ★★ ⚠ same condition
AMH p.Thr268Ala Uncertain significance ★★ ⚠ same condition
AMH p.Thr99Ser 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/amh-p-arg191ter (accessed [today's date]).

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