Is CAV1 p.Ile150fs (c.446_447insT) pathogenic?

CAV1 p.Ile150fs (c.446447insT) is classified Likely pathogenic in CAV1 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-01-17). No gnomAD frequency available for this variant; Associated with pulmonary hypertension, primary, 3.

What condition is associated with CAV1 p.Ile150fs (c.446_447insT)?

CAV1 p.Ile150fs (c.446_447insT) is associated with pulmonary hypertension, primary, 3 (ClinVar).

How common is CAV1 p.Ile150fs (c.446_447insT) in the general population?

CAV1 p.Ile150fs (c.446_447insT) is no gnomAD frequency available for this variant (gnomAD).

CAV1 p.Ile150fs

c.446_447insT · rs2116117201 · VCV1493101

Likely pathogenic Single submitter

Classification

Likely 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

pulmonary hypertension, primary, 3

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	escapes	premature termination codon in the last exon (3 of 3) — the truncated protein is likely expressed. PVS1 input, not an applied code
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.7	GERP 2, phastCons 1

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: CAV1
Protein: p.Ile150fs
Coding: c.446_447insT
MANE Select: NM_001753
dbSNP: rs2116117201
Type: Insertion
Location: chr7:116559196 (GRCh38)
Gene constraint: LOEUF 0.967 · pLI 0.01 (gnomAD)
Structure: AlphaFold pLDDT 78.60 · 1 PDB
Residue 150: an α-helix; the 'interacts with spry1, spry2, and spry4' region

Full CAV1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

pulmonary hypertension, primary, 3 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

CAV1 p.Ile150Val Conflicting classifications of pathogenicity ★ ⚠ same residue
CAV1 c.30+3A>G Uncertain significance ★★ same condition
CAV1 p.Arg101His Uncertain significance ★★ ⚠ same condition
CAV1 p.Arg171His Uncertain significance ★★ ⚠ same condition
CAV1 p.Gly83Ser Uncertain significance ★★ ⚠ same condition
CAV1 p.His79Arg Uncertain significance ★★ ⚠ same condition
CAV1 p.Lys86Arg Uncertain significance ★★ ⚠ same condition
CAV1 p.Phe68Val 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/cav1-p-ile150fs (accessed [today's date]).

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