Is DRC1 p.Lys338fs (c.1013del) pathogenic?

DRC1 p.Lys338fs (c.1013del) is classified Pathogenic in DRC1 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-12-15). Absent from gnomAD; Associated with primary ciliary dyskinesia.

What condition is associated with DRC1 p.Lys338fs (c.1013del)?

DRC1 p.Lys338fs (c.1013del) is associated with primary ciliary dyskinesia (ClinVar).

How common is DRC1 p.Lys338fs (c.1013del) in the general population?

DRC1 p.Lys338fs (c.1013del) is absent from gnomAD (gnomAD).

How is Primary ciliary dyskinesia inherited?

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

DRC1 p.Lys338fs

c.1013del · rs1663691728 · VCV2906709

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

primary ciliary dyskinesia

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 8 of 17
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 6.5	GERP 0.34, 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: DRC1
Protein: p.Lys338fs
Coding: c.1013del
MANE Select: NM_145038
dbSNP: rs1663691728
Type: Deletion
Location: chr2:26440501 (GRCh38)
Gene constraint: LOEUF 0.867 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 75.44 · 1 PDB
Residue 338: a UniProt-annotated variant site (in spgf80); a UniProt-annotated variant site (in cild21)

Full DRC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

primary ciliary dyskinesia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Primary ciliary dyskinesia (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive, X-linked recessive
Onset: Neonatal
Prevalence: 1-5 / 10 000 (Pakistan)

Similar variants

DRC1 p.Ser659fs Pathogenic ★★ same condition
DRC1 p.Arg694fs Uncertain significance ★★ same condition
DRC1 p.Lys574_Glu578del Likely benign ★★ same condition
DRC1 p.Asn442fs Pathogenic ★ same condition
DRC1 p.Gln296fs Pathogenic ★ same condition
DRC1 p.Leu518fs Pathogenic ★ same condition
DRC1 p.Thr491fs Pathogenic ★ same condition
DRC1 p.Asp501del Uncertain significance ★ 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/drc1-p-lys338fs (accessed [today's date]).

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