Is FRMD7 p.Ser128= (c.384A>G) pathogenic?

FRMD7 p.Ser128= (c.384A>G) is classified Uncertain significance in FRMD7 (ClinVar, Single submitter, 1 submitter; last evaluated 2018-01-12). No allele count reported in gnomAD v4.1 (AN 1,133,012); Associated with nystagmus 1, congenital, X-linked.

What condition is associated with FRMD7 p.Ser128= (c.384A>G)?

FRMD7 p.Ser128= (c.384A>G) is associated with nystagmus 1, congenital, X-linked (ClinVar).

How common is FRMD7 p.Ser128= (c.384A>G) in the general population?

FRMD7 p.Ser128= (c.384A>G) is no allele count reported in gnomAD v4.1 (AN 1,133,012) (gnomAD).

FRMD7 p.Ser128=

c.384A>G · rs1927977937 · VCV914410

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,133,012)

Conditions

nystagmus 1, congenital, X-linked

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal.
Splicing
SpliceAI	Δ0.83	acceptor loss · deltas
Constraint at this position
Conservation	phyloP 0.88	GERP -1.3, phastCons 1
Overall
CADD	12.4	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,133,012). 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: FRMD7
Protein: p.Ser128=
Coding: c.384A>G
MANE Select: NM_194277
dbSNP: rs1927977937
Type: single nucleotide variant
Location: chrX:132086033 (GRCh38)
Structure: AlphaFold pLDDT 62.31
Residue 128: the ferm domain

Full FRMD7 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

nystagmus 1, congenital, X-linked — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

FRMD7 p.Ala194Thr Pathogenic/Likely pathogenic ★★ same condition
FRMD7 p.Arg261Gln Pathogenic/Likely pathogenic ★★ same condition
FRMD7 p.Arg261Ter Pathogenic ★★ same condition
FRMD7 p.Arg304Ter Pathogenic ★★ same condition
FRMD7 p.Arg335Ter Pathogenic ★★ same condition
FRMD7 p.Gly24Arg Pathogenic ★★ same condition
FRMD7 p.Leu142Arg Pathogenic/Likely pathogenic ★★ same condition
FRMD7 p.Leu231Val 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/frmd7-p-ser128 (accessed [today's date]).

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