Is OCA2 p.Phe810fs (c.2430del) pathogenic?

OCA2 p.Phe810fs (c.2430del) is classified Uncertain significance in OCA2 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-07-17). Associated with oculocutaneous albinism type 2.

What condition is associated with OCA2 p.Phe810fs (c.2430del)?

OCA2 p.Phe810fs (c.2430del) is associated with oculocutaneous albinism type 2 (ClinVar).

How is Oculocutaneous albinism type 2 inherited?

Typically Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

OCA2 p.Phe810fs

c.2430del · VCV3776100

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

oculocutaneous albinism type 2

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 within the last 50 nt of the penultimate exon (23 of 24, 2 nt from its 3' end) — 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 1.6, phastCons 1

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

Variant & gene context

Gene: OCA2
Protein: p.Phe810fs
Coding: c.2430del
MANE Select: NM_000275
Type: Deletion
Location: chr15:27844961 (GRCh38)
Gene constraint: LOEUF 0.869 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 73.79

Full OCA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

oculocutaneous albinism type 2 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Oculocutaneous albinism type 2 (Orphanet):

Inheritance: Autosomal recessive
Onset: Infancy, Neonatal
Prevalence: 6-9 / 10 000 (Specific population)

Similar variants

OCA2 p.Ala696fs Pathogenic/Likely pathogenic ★★ same condition
OCA2 p.Arg137fs Pathogenic ★★ same condition
OCA2 p.Arg53fs Pathogenic/Likely pathogenic ★★ same condition
OCA2 p.Asn603fs Pathogenic/Likely pathogenic ★★ same condition
OCA2 p.Glu253fs Pathogenic ★★ same condition
OCA2 p.Gly44fs Pathogenic/Likely pathogenic ★★ same condition
OCA2 p.Leu207_Leu212del Pathogenic/Likely pathogenic ★★ same condition
OCA2 p.Leu316_Leu317insTer Pathogenic/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/oca2-p-phe810fs (accessed [today's date]).

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