Is DST p.Ala203Val (c.608C>T) pathogenic?

DST p.Ala203Val (c.608C>T) is classified Uncertain significance in DST (ClinVar, Single submitter, 1 submitter; last evaluated 2021-11-16). Absent from gnomAD v4.1; Associated with Inborn genetic diseases.

What condition is associated with DST p.Ala203Val (c.608C>T)?

DST p.Ala203Val (c.608C>T) is associated with Inborn genetic diseases (ClinVar).

How common is DST p.Ala203Val (c.608C>T) in the general population?

DST p.Ala203Val (c.608C>T) is absent from gnomAD v4.1 (gnomAD).

DST p.Ala203Val

c.608C>T · rs201871537 · VCV1751496

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

Inborn genetic diseases

⚠ 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.
REVEL	0.414	indeterminate
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 12	GERP 1.6, phastCons 1
Regional constraint	o/e 0.81	unconstrained · MANE · 320 kb · p 2.5e-12 · regional, not allelic
Overall
CADD	26.6	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: DST
Protein: p.Ala203Val
Coding: c.608C>T
MANE Select: NM_001374736
dbSNP: rs201871537
Type: single nucleotide variant
Location: chr6:56851414 (GRCh38)

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

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

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/dst-p-ala203val (accessed [today's date]).

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