Is CPAMD8 p.Arg565fs (c.1691dup) pathogenic?

CPAMD8 p.Arg565fs (c.1691dup) is classified Likely pathogenic in CPAMD8 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-10-15). No gnomAD frequency available for this variant; Associated with Abnormal anterior eye segment morphology.

What condition is associated with CPAMD8 p.Arg565fs (c.1691dup)?

CPAMD8 p.Arg565fs (c.1691dup) is associated with Abnormal anterior eye segment morphology (ClinVar).

How common is CPAMD8 p.Arg565fs (c.1691dup) in the general population?

CPAMD8 p.Arg565fs (c.1691dup) is no gnomAD frequency available for this variant (gnomAD).

CPAMD8 p.Arg565fs

c.1691dup · rs2513247583 · VCV1710323

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

Abnormal anterior eye segment morphology

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 42
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 1.2	GERP 0.91, 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: CPAMD8
Protein: p.Arg565fs
Coding: c.1691dup
MANE Select: NM_015692
dbSNP: rs2513247583
Type: Duplication
Location: chr19:16977434 (GRCh38)
Gene constraint: LOEUF 0.825 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 72.99

Full CPAMD8 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Abnormal anterior eye segment morphology — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

CPAMD8 p.Arg565Gly Uncertain significance ★ ⚠ same residue
CPAMD8 p.Arg738fs Pathogenic ★★ same type
CPAMD8 p.His1005fs Pathogenic ★ same type
CPAMD8 c.-110_-96dup Uncertain significance ★ same type
CPAMD8 c.1267-87dup Benign ★ same type
CPAMD8 c.3144+158dup Benign ★ same type
CPAMD8 c.4773+68dup Benign ★ same type
CPAMD8 c.4849-165dup Benign ★ 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/cpamd8-p-arg565fs (accessed [today's date]).

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