Is STRC p.Gln1168fs (c.3502_3503del) pathogenic?

STRC p.Gln1168fs (c.35023503del) is classified Pathogenic/Likely pathogenic in STRC (ClinVar, Multiple submitters, 2 submitters; last evaluated 2022-02-10). Very rare (popmax 0.000424%, nfe); Associated with Rare genetic deafness.

What condition is associated with STRC p.Gln1168fs (c.3502_3503del)?

STRC p.Gln1168fs (c.3502_3503del) is associated with Rare genetic deafness (ClinVar).

How common is STRC p.Gln1168fs (c.3502_3503del) in the general population?

STRC p.Gln1168fs (c.3502_3503del) is very rare (popmax 0.000424%, nfe) (gnomAD).

STRC p.Gln1168fs

c.3502_3503del · rs764864372 · VCV451441

Pathogenic/Likely pathogenic Multiple submitters

Classification

Pathogenic/Likely pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

very rare (popmax 0.000424%, nfe)

Conditions

Rare genetic deafness

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 16 of 29
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 1	GERP 0.36, phastCons 1
Region caveats
Repeat context	seg dup	· reads may not map uniquely · confidence, not pathogenicity

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

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.000424% European (non-Finnish) · 5/1,178,974 alleles

Filtering AF 0.000124% ClinGen BA1/BS1 input FAF95, joint · FAF99 9e-05%

Overall 0.000311% 5/1,608,970 alleles · very rare exomes 5/1,459,510 · genomes 0/149,460 · joint denominator

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: STRC
Protein: p.Gln1168fs
Coding: c.3502_3503del
MANE Select: NM_153700
dbSNP: rs764864372
Type: Microsatellite
Location: chr15:43609330 (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

Disease context

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

Similar variants

STRC p.Arg1224Ter Pathogenic ★★ same condition
STRC p.Arg1468Ter Pathogenic ★★ same condition
STRC p.Glu1399Ter Pathogenic ★★ same condition
STRC c.(?_3795 Pathogenic ★ same condition
STRC c.4375+1G>A Pathogenic ★ same condition
STRC c.(?_4702 Pathogenic ★ same condition
STRC c.4702-2A>C Likely pathogenic ★ same condition
STRC p.Arg127Ter Pathogenic ★ 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/strc-p-gln1168fs (accessed [today's date]).

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