Is CARMIL2 p.Pro451fs (c.1352_1382del) pathogenic?

CARMIL2 p.Pro451fs (c.13521382del) is classified Pathogenic/Likely pathogenic in CARMIL2 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2024-01-06). No gnomAD frequency available for this variant; Associated with CARMIL2-related disorder.

What condition is associated with CARMIL2 p.Pro451fs (c.1352_1382del)?

CARMIL2 p.Pro451fs (c.1352_1382del) is associated with CARMIL2-related disorder (ClinVar).

How common is CARMIL2 p.Pro451fs (c.1352_1382del) in the general population?

CARMIL2 p.Pro451fs (c.1352_1382del) is no gnomAD frequency available for this variant (gnomAD).

CARMIL2 p.Pro451fs

c.1352_1382del · rs2543547067 · VCV2636490

Pathogenic/Likely pathogenic Multiple submitters

Classification

Pathogenic/Likely pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

CARMIL2-related disorder

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 15 of 38
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 2.3	GERP -3.2, 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: CARMIL2
Protein: p.Pro451fs
Coding: c.1352_1382del
MANE Select: NM_001013838
dbSNP: rs2543547067
Type: Deletion
Location: chr16:67648408 (GRCh38)
Gene constraint: LOEUF 0.701 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 61.50

Full CARMIL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

CARMIL2-related disorder

Similar variants

CARMIL2 p.Leu515fs Likely pathogenic ★ same condition
CARMIL2 p.Trp32fs Likely pathogenic ★ same condition
CARMIL2 p.Ala74Thr Uncertain significance ★★ ⚠ same condition
CARMIL2 p.Asp1159Glu Uncertain significance ★★ ⚠ same condition
CARMIL2 p.Pro847Leu Uncertain significance ★★ ⚠ same condition
CARMIL2 c.132+1G>A Likely pathogenic ★ same condition
CARMIL2 c.1335-2A>G Likely pathogenic ★ same condition
CARMIL2 c.1920-1G>C Likely 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/carmil2-p-pro451fs (accessed [today's date]).

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