Is MFRP p.Phe356= (c.1068T>C) pathogenic?

MFRP p.Phe356= (c.1068T>C) is classified Likely benign in MFRP (ClinVar, Single submitter, 1 submitter; last evaluated 2023-08-04). Absent from gnomAD v4.1; Associated with isolated microphthalmia 5.

What condition is associated with MFRP p.Phe356= (c.1068T>C)?

MFRP p.Phe356= (c.1068T>C) is associated with isolated microphthalmia 5 (ClinVar).

How common is MFRP p.Phe356= (c.1068T>C) in the general population?

MFRP p.Phe356= (c.1068T>C) is absent from gnomAD v4.1 (gnomAD).

MFRP p.Phe356=

Q: How is Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome inherited?

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

c.1068T>C · rs2135370541 · VCV1542809

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

isolated microphthalmia 5

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 0.13	GERP -3.1
Overall
CADD	8.379	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: MFRP
Protein: p.Phe356=
Coding: c.1068T>C
MANE Select: NM_031433
dbSNP: rs2135370541
Type: single nucleotide variant
Location: chr11:119343872 (GRCh38)

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

Disease context

isolated microphthalmia 5 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome (Orphanet):

Inheritance: Autosomal recessive
Onset: Adult

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/mfrp-p-phe356 (accessed [today's date]).

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