MFSD8 p.Asp68=
c.204T>C · rs2546167988 · VCV2128871
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
neuronal ceroid lipofuscinosis 7
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2.4 | GERP -1.9, phastCons 1 |
| Overall | ||
| CADD | 6.856 | 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
- MFSD8
- Protein
- p.Asp68=
- Coding
- c.204T>C
- MANE Select
- NM_001371596
- dbSNP
- rs2546167988
- Type
- single nucleotide variant
- Location
- chr4:127943987 (GRCh38)
- Gene constraint
- LOEUF 1.005 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 83.20
Disease context
neuronal ceroid lipofuscinosis 7 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor CLN7 disease (Orphanet):
- Onset
- Infancy
Similar variants
- MFSD8 c.1102+1G>A Likely pathogenic ★★ same condition
- MFSD8 c.1102+2T>C Pathogenic/Likely pathogenic ★★ same condition
- MFSD8 c.1350+2T>C Pathogenic/Likely pathogenic ★★ same condition
- MFSD8 c.154+1G>A Likely pathogenic ★★ same condition
- MFSD8 c.198+2T>C Pathogenic/Likely pathogenic ★★ same condition
- MFSD8 c.439+2T>A Likely pathogenic ★★ same condition
- MFSD8 c.440-2A>T Likely pathogenic ★★ same condition
- MFSD8 c.553+1G>A 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/mfsd8-p-asp68 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown