Is COASY p.Ala395= (c.1185C>T) pathogenic?

COASY p.Ala395= (c.1185C>T) is classified Likely benign in COASY (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-08-09). Absent from gnomAD v4.1; Associated with COASY-related disorder.

What condition is associated with COASY p.Ala395= (c.1185C>T)?

COASY p.Ala395= (c.1185C>T) is associated with COASY-related disorder (ClinVar).

How common is COASY p.Ala395= (c.1185C>T) in the general population?

COASY p.Ala395= (c.1185C>T) is absent from gnomAD v4.1 (gnomAD).

COASY p.Ala395=

c.1185C>T · rs1227865861 · VCV3035629

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,585,334)

Conditions

COASY-related disorder

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 0.45	GERP 0.28, phastCons 0.99
Overall
CADD	14.25	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,585,334). 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: COASY
Protein: p.Ala395=
Coding: c.1185C>T
MANE Select: NM_025233
dbSNP: rs1227865861
Type: single nucleotide variant
Location: chr17:42564846 (GRCh38)
Gene constraint: LOEUF 0.791 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 89.51
Residue 395: the dpck domain; a UniProt-annotated variant site (in nbia6; reduced protein abundance)

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

Disease context

COASY-related disorder

Similar variants

COASY p.Ala395Thr Uncertain significance ★★ ⚠ same residue
COASY c.1486-3C>G Pathogenic/Likely pathogenic ★★ same condition
COASY p.Ala214Val Likely pathogenic ★★ ⚠ same condition
COASY p.Gln523Ter Pathogenic ★★ same condition
COASY p.Lys371Arg Conflicting classifications of pathogenicity ★ ⚠ same condition
PPAT p.Arg351Trp Likely benign same condition
COASY p.Gly432fs Likely pathogenic ★ same condition
COASY p.Ile469Ter Conflicting classifications of pathogenicity ★ 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/coasy-p-ala395 (accessed [today's date]).

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