Is KRT14 p.Arg6fs (c.17del) pathogenic?

KRT14 p.Arg6fs (c.17del) is classified Pathogenic in KRT14 (ClinVar, No assertion criteria, 2 submitters; last evaluated 2006-10-01). No gnomAD frequency available for this variant; Associated with Naegeli-Franceschetti-Jadassohn syndrome.

What condition is associated with KRT14 p.Arg6fs (c.17del)?

KRT14 p.Arg6fs (c.17del) is associated with Naegeli-Franceschetti-Jadassohn syndrome (ClinVar).

How common is KRT14 p.Arg6fs (c.17del) in the general population?

KRT14 p.Arg6fs (c.17del) is no gnomAD frequency available for this variant (gnomAD).

How is Naegeli-Franceschetti-Jadassohn syndrome inherited?

Typically Autosomal dominant (Orphanet). A genetic counselor can assess individual risk for a family.

KRT14 p.Arg6fs

c.17del · rs267607390 · VCV66329

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 2 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Naegeli-Franceschetti-Jadassohn syndrome

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 1 of 8
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 2.3	GERP -0.45, 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

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: KRT14
Protein: p.Arg6fs
Coding: c.17del
MANE Select: NM_000526
dbSNP: rs267607390
Type: Deletion
Location: chr17:41586818 (GRCh38)
Gene constraint: LOEUF 0.932 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 76.00 · 6 PDB
Residue 6: the 'head' region

Full KRT14 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Naegeli-Franceschetti-Jadassohn syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Naegeli-Franceschetti-Jadassohn syndrome (Orphanet):

Inheritance: Autosomal dominant
Onset: Infancy, Neonatal
Prevalence: <1 / 1 000 000 (Europe)

Similar variants

KRT14 p.Arg6His Uncertain significance ★ ⚠ same residue
KRT14 c.526-2A>C Likely pathogenic ★★ same condition
KRT14 p.Arg388His Likely pathogenic ★★ same condition
KRT14 p.Gly47Arg Uncertain significance ★★ ⚠ same condition
KRT14 p.Ala413Thr Benign/Likely benign ★★ ⚠ same condition
KRT14 p.Arg56Cys Benign/Likely benign ★★ ⚠ same condition
KRT14 p.Asn123= Benign ★★ same condition
KRT14 p.Cys63Tyr Benign ★★ 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/krt14-p-arg6fs (accessed [today's date]).

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