Is COMP p.Asp319fs (c.955del) pathogenic?

COMP p.Asp319fs (c.955del) is classified Uncertain significance in COMP (ClinVar, Single submitter, 1 submitter; last evaluated 2022-03-15). Absent from gnomAD.

How common is COMP p.Asp319fs (c.955del) in the general population?

COMP p.Asp319fs (c.955del) is absent from gnomAD (gnomAD).

COMP p.Asp319fs

c.955del · rs2512851428 · VCV2109705

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

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.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 9 of 19
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.8	GERP 2, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

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.Asp319fs
Coding: c.955del
MANE Select: NM_000095
dbSNP: rs2512851428
Type: Deletion
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.Asp319Tyr Uncertain significance ★ same residue
COMP p.Asp319Val Uncertain significance ★ ⚠ same residue
COMP p.Asp385del Likely pathogenic ★★ same type
COMP p.Glu341_Asp342del Pathogenic/Likely pathogenic ★★ same type
COMP c.1136-1_1144del Likely pathogenic ★ same type
COMP p.437DG[1] Likely pathogenic ★ same type
COMP p.Asn350_Asp372del Likely pathogenic ★ 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-asp319fs (accessed [today's date]).

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