Is SUN2 p.Tyr567= (c.1701C>T) pathogenic?

SUN2 p.Tyr567= (c.1701C>T) is classified Benign/Likely benign in SUN2 (ClinVar, Multiple submitters, 3 submitters; last evaluated 2026-01-26). Low-frequency (popmax 3.12%, afr); Associated with Emery-Dreifuss muscular dystrophy.

What condition is associated with SUN2 p.Tyr567= (c.1701C>T)?

SUN2 p.Tyr567= (c.1701C>T) is associated with Emery-Dreifuss muscular dystrophy (ClinVar).

How common is SUN2 p.Tyr567= (c.1701C>T) in the general population?

SUN2 p.Tyr567= (c.1701C>T) is low-frequency (popmax 3.12%, afr) (gnomAD).

How is Emery-Dreifuss muscular dystrophy inherited?

Typically Autosomal dominant, Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

SUN2 p.Tyr567=

c.1701C>T · rs8138622 · VCV461680

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

gnomAD v4.1

Rare

low-frequency (popmax 3.12%, afr)

Conditions

Emery-Dreifuss muscular dystrophy

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP -6.3	GERP -5.1
Overall
CADD	1.554	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 3.12% African / African-American · 2,343/75,010 alleles

Filtering AF 3.02% ClinGen BA1/BS1 input FAF95, joint · FAF99 2.98%

Overall 0.164% 2,648/1,613,650 alleles · low-frequency exomes 1,398/1,461,416 · genomes 1,250/152,234 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	3.12%	32
Remaining individualsnot grpmax-eligible	0.178%	563
Admixed American	0.163%	612
Middle Eastern	0.0661%	1,514
European (non-Finnish)	0.00737%	13,561
East Asian	0.00446%	22,437
South Asian	0.0033%	30,331

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: SUN2
Protein: p.Tyr567=
Coding: c.1701C>T
MANE Select: NM_015374
dbSNP: rs8138622
Type: single nucleotide variant
Location: chr22:38738951 (GRCh38)

Full SUN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Emery-Dreifuss muscular dystrophy — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Emery-Dreifuss muscular dystrophy (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive, X-linked recessive
Onset: Childhood
Prevalence: 1-9 / 1 000 000 (Europe)

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/sun2-p-tyr567 (accessed [today's date]).

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