Is EMD p.Ser199del (c.576CTC[1]) pathogenic?

EMD p.Ser199del (c.576CTC[1]) is classified Uncertain significance in EMD (ClinVar, Multiple submitters, 3 submitters; last evaluated 2021-09-01). Absent from gnomAD; Associated with X-linked Emery-Dreifuss muscular dystrophy.

What condition is associated with EMD p.Ser199del (c.576CTC[1])?

EMD p.Ser199del (c.576CTC[1]) is associated with X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy (ClinVar).

How common is EMD p.Ser199del (c.576CTC[1]) in the general population?

EMD p.Ser199del (c.576CTC[1]) is absent from gnomAD (gnomAD).

How is Emery-Dreifuss muscular dystrophy inherited?

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

EMD p.Ser199del

c.576CTC[1] · rs2067884874 · VCV1011200

Uncertain significance Multiple submitters

Classification

Uncertain significance

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

X-linked Emery-Dreifuss muscular dystrophy

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.67	GERP -1.9, phastCons 0.03
Region caveats
Repeat context	tandem	(TCC)n simple repeat · ambiguous alignment · confidence, not pathogenicity

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: EMD
Protein: p.Ser199del
Coding: c.576CTC[1]
MANE Select: NM_000117
dbSNP: rs2067884874
Type: Microsatellite
Location: chrX:154381006 (GRCh38)
Structure: AlphaFold pLDDT 61.26 · 6 PDB
Residue 199: the 'interaction with f-actin' region

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

Disease context

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

Also linked: Emery-Dreifuss muscular dystrophy

For Emery-Dreifuss muscular dystrophy (Orphanet):

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

Similar variants

EMD p.Ser199Leu Uncertain significance ★ ⚠ same residue
EMD p.Ser199= Likely benign ★ same residue
EMD p.Gln119_Ser120insTer Pathogenic/Likely pathogenic ★★ same condition
EMD p.Leu217fs Pathogenic ★★ same condition
EMD p.Ser143del Uncertain significance ★★ same condition
EMD c.400-13CT[2] Benign/Likely benign ★★ same condition
EMD c.-161CAACGATTCGGCTGTGACGCGA[1] Likely benign ★★ same condition
EMD p.Lys79fs 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/emd-p-ser199del (accessed [today's date]).

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