Is CAV3 p.Glu34del (c.102_104del) pathogenic?

CAV3 p.Glu34del (c.102104del) is classified Uncertain significance in CAV3 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-04-22). Absent from gnomAD.

How common is CAV3 p.Glu34del (c.102_104del) in the general population?

CAV3 p.Glu34del (c.102_104del) is absent from gnomAD (gnomAD).

CAV3 p.Glu34del

c.102_104del · rs2124977243 · VCV1305329

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

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 -1.6	GERP -5

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: CAV3
Protein: p.Glu34del
Coding: c.102_104del
MANE Select: NM_033337
dbSNP: rs2124977243
Type: Deletion
Location: chr3:8733976 (GRCh38)
Gene constraint: LOEUF 1.064 · pLI 0.04 (gnomAD)
Structure: AlphaFold pLDDT 88.54

Full CAV3 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

CAV3 p.Glu34Lys Conflicting classifications of pathogenicity ★ ⚠ same residue
CAV3 p.Asp43_Ala46del Uncertain significance ★★ same type
CAV3 p.Asp55fs Uncertain significance ★★ same type
CAV3 p.Cys106fs Uncertain significance ★★ same type
CAV3 p.Phe97del Uncertain significance ★★ same type
CAV3 p.Ter152LysextTer? Uncertain significance ★★ same type
CAV3 c.115-45_115-29del Benign/Likely benign ★★ same type
CAV3 p.Leu86fs Pathogenic ★ same type

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/cav3-p-glu34del (accessed [today's date]).

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