Is ASMT p.Phe266Val (c.796T>G) pathogenic?

ASMT p.Phe266Val (c.796T>G) is classified Uncertain significance in ASMT (ClinVar, Single submitter, 1 submitter; last evaluated 2021-11-23). Absent from gnomAD v4.1.

How common is ASMT p.Phe266Val (c.796T>G) in the general population?

ASMT p.Phe266Val (c.796T>G) is absent from gnomAD v4.1 (gnomAD).

ASMT p.Phe266Val

c.796T>G · rs2521893473 · VCV2688615

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.401	indeterminate
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 3.9	GERP 1.9, phastCons 1
Regional constraint	o/e 1.20	unconstrained · MANE · 28 kb · p 2e-05 · regional, not allelic
Overall
CADD	21.9	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: ASMT
Protein: p.Phe266Val
Coding: c.796T>G
MANE Select: NM_001171038
dbSNP: rs2521893473
Type: single nucleotide variant
Location: chrX:1636446 (GRCh38)
Structure: AlphaFold pLDDT 95.55 · 2 PDB
Residue 266: an α-helix

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

Similar variants

ASMT p.Lys81Glu Likely benign ★★ same type
ASMT c.562+2T>C Conflicting classifications of pathogenicity ★ same type
ASMT p.Asn17Lys Uncertain significance ★ same type
ASMT p.Cys29Ter Uncertain significance ★ same type
ASMT p.Tyr229Ter Uncertain significance ★ same type
ASMT p.Val236Ile Uncertain significance ★ same type
ASMT p.Arg210= Likely benign same type
ASMT p.Asp122= Likely 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/asmt-p-phe266val (accessed [today's date]).

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