Is COMP p.Asp319Tyr (c.954_955delinsTT) pathogenic?

COMP p.Asp319Tyr (c.954955delinsTT) is classified Uncertain significance in COMP (ClinVar, Single submitter, 1 submitter; last evaluated 2015-11-13). Absent from gnomAD.

How common is COMP p.Asp319Tyr (c.954_955delinsTT) in the general population?

COMP p.Asp319Tyr (c.954_955delinsTT) is absent from gnomAD (gnomAD).

COMP p.Asp319Tyr

c.954_955delinsTT · rs886042963 · VCV284868

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.5	GERP 2, phastCons 1
Regional constraint	o/e 0.84	unconstrained · MANE · 8,351 bp · p 2.2e-07 · regional, not allelic

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. 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: COMP
Protein: p.Asp319Tyr
Coding: c.954_955delinsTT
MANE Select: NM_000095
dbSNP: rs886042963
Type: Indel
Location: chr19:18788232 (GRCh38)
Gene constraint: LOEUF 1.073 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 88.60 · 1 PDB
Residue 319: a β-strand; the 'disordered' region

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

Similar variants

COMP p.Asp319Asn Uncertain significance ★ ⚠ same residue
COMP p.Asp319fs Uncertain significance ★ same residue
COMP p.Asp319Val Uncertain significance ★ ⚠ same residue
COMP p.Asn291delinsCysAlaArgPro Likely pathogenic ★ same type
COMP p.Asp357Phe Likely pathogenic ★ same type
COMP p.Asn409_Gln412delinsLysCysProPro Uncertain significance ★ same type
COMP p.Asp401_Ile403delinsLeu Uncertain significance ★ 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/comp-p-asp319tyr (accessed [today's date]).

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