Is EMD p.Met73fs (c.217dup) pathogenic?

EMD p.Met73fs (c.217dup) is classified Pathogenic in EMD (ClinVar, Single submitter, 1 submitter; last evaluated 2018-05-14). Absent from gnomAD; Associated with Cardiovascular phenotype.

What condition is associated with EMD p.Met73fs (c.217dup)?

EMD p.Met73fs (c.217dup) is associated with Cardiovascular phenotype (ClinVar).

How common is EMD p.Met73fs (c.217dup) in the general population?

EMD p.Met73fs (c.217dup) is absent from gnomAD (gnomAD).

EMD p.Met73fs

c.217dup · rs2522788283 · VCV1787242

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Cardiovascular phenotype

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 3 of 6
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.25	GERP -1.9, phastCons 0.59

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

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.Met73fs
Coding: c.217dup
MANE Select: NM_000117
dbSNP: rs2522788283
Type: Duplication
Location: chrX:154379970 (GRCh38)
Structure: AlphaFold pLDDT 61.26 · 6 PDB
Residue 73: the 'interaction with f-actin' region

Full EMD 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

EMD p.Met73Thr Uncertain significance ★ ⚠ same residue
EMD p.Leu217fs Pathogenic ★★ same condition
EMD c.400-3C>T Uncertain significance ★★ same condition
EMD c.449+4C>T Uncertain significance ★★ same condition
EMD p.Arg168Cys Uncertain significance ★★ ⚠ same condition
EMD p.Arg203His Uncertain significance ★★ ⚠ same condition
EMD p.Arg207Gln Uncertain significance ★★ ⚠ same condition
EMD p.Asp72Val 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/emd-p-met73fs (accessed [today's date]).

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