Is MCIDAS p.Pro168fs (c.501del) pathogenic?

MCIDAS p.Pro168fs (c.501del) is classified Likely pathogenic in MCIDAS (ClinVar, Single submitter, 1 submitter; last evaluated 2023-05-25). No gnomAD frequency available for this variant; Associated with ciliary dyskinesia, primary, 42.

What condition is associated with MCIDAS p.Pro168fs (c.501del)?

MCIDAS p.Pro168fs (c.501del) is associated with ciliary dyskinesia, primary, 42 (ClinVar).

How common is MCIDAS p.Pro168fs (c.501del) in the general population?

MCIDAS p.Pro168fs (c.501del) is no gnomAD frequency available for this variant (gnomAD).

How is Primary ciliary dyskinesia inherited?

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

MCIDAS p.Pro168fs

c.501del · rs2478513634 · VCV2690641

Likely pathogenic Single submitter

Classification

Likely 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

ciliary dyskinesia, primary, 42

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 5 of 7
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 2.5	GERP 0.032, phastCons 0.23

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: MCIDAS
Protein: p.Pro168fs
Coding: c.501del
MANE Select: NM_001190787
dbSNP: rs2478513634
Type: Deletion
Location: chr5:55222281 (GRCh38)
Gene constraint: LOEUF 0.989 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 61.68 · 1 PDB
Residue 168: the 'necessary and sufficient for proper nuclear localization' region; a UniProt-annotated variant site (in cild42; reduced number of cilia and basal bodies)

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

Disease context

ciliary dyskinesia, primary, 42 — 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

MCIDAS p.Ser347Phe Uncertain significance ★★ ⚠ same condition
MCIDAS c.218-13_218-6dup Likely benign ★★ same condition
MCIDAS p.Cys277= Benign ★★ same condition
MCIDAS p.Gly274Glu Benign/Likely benign ★★ same condition
MCIDAS p.Gly54= Benign/Likely benign ★★ same condition
MCIDAS p.Arg381His Likely pathogenic ★ ⚠ same condition
MCIDAS c.120+2dup Uncertain significance ★ same condition
MCIDAS c.120+3G>A Conflicting classifications of pathogenicity ★ 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/mcidas-p-pro168fs (accessed [today's date]).

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