Is STRC c.(?_4443 pathogenic?

STRC c.(?4443 is classified Uncertain significance in STRC (ClinVar, Single submitter, 1 submitter; last evaluated 2017-01-12).

STRC c.(?_4443

VCV517231

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

Computational evidence

Protein change
Missense predictors do not apply to this variant type.

Variant & gene context

Gene: STRC
Coding: c.(?_4443
MANE Select: NM_153700
Type: Duplication
Location: chr15:None (GRCh38)
Gene constraint: LOEUF 0.713 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 69.21

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

Similar variants

STRC p.Arg1406fs Likely pathogenic ★ same type
STRC p.Leu1606fs Pathogenic ★ same type
STRC c.(?_3519 Uncertain significance ★ same type
STRC c.(?_4845 Uncertain significance ★ same type
STRC c.3307-17dup Benign ★ same type
STRC p.Cys1053fs 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/strc-c-4443 (accessed [today's date]).

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