Is MCIDAS p.Asp78= (c.234C>T) pathogenic?

MCIDAS p.Asp78= (c.234C>T) is classified Likely benign in MCIDAS (ClinVar, Multiple submitters, 4 submitters; last evaluated 2026-01-15). Low-frequency (popmax 1.33%, mid); Associated with primary ciliary dyskinesia.

What condition is associated with MCIDAS p.Asp78= (c.234C>T)?

MCIDAS p.Asp78= (c.234C>T) is associated with primary ciliary dyskinesia (ClinVar).

How common is MCIDAS p.Asp78= (c.234C>T) in the general population?

MCIDAS p.Asp78= (c.234C>T) is low-frequency (popmax 1.33%, mid) (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.Asp78=

c.234C>T · rs756870581 · VCV238619

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 4 submitters

gnomAD v4.1

Rare

low-frequency (popmax 1.33%, mid)

Conditions

primary ciliary dyskinesia

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP 6.4	GERP 1.7, phastCons 1
Overall
CADD	14.03	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 1.33% Middle Eastern · 77/5,808 alleles

Filtering AF 1.09% ClinGen BA1/BS1 input FAF95, joint · FAF99 1%

Overall 0.0262% 400/1,529,130 alleles · low-frequency exomes 368/1,376,790 · genomes 32/152,340 · joint denominator

Ancestry group	Frequency	1 in
Middle Easterngrpmax	1.33%	75
Ashkenazi Jewishnot grpmax-eligible	0.0918%	1,089
Remaining individualsnot grpmax-eligible	0.0603%	1,657
African / African-American	0.0412%	2,427
Admixed American	0.0279%	3,583
European (non-Finnish)	0.0181%	5,525
South Asian	0.012%	8,321

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: MCIDAS
Protein: p.Asp78=
Coding: c.234C>T
MANE Select: NM_001190787
dbSNP: rs756870581
Type: single nucleotide variant
Location: chr5:55226651 (GRCh38)
Gene constraint: LOEUF 0.989 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 61.68 · 1 PDB
Residue 78: the 'necessary and sufficient for its degradation during the cell cycle' region

Full MCIDAS 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

MCIDAS p.Leu335Ter Pathogenic/Likely pathogenic ★★ same condition
MCIDAS p.Ala228Ser Uncertain significance ★★ ⚠ same condition
MCIDAS p.Ala362Val Uncertain significance ★★ ⚠ same condition
MCIDAS p.Ala93Pro Uncertain significance ★★ ⚠ same condition
MCIDAS p.Arg285Thr Uncertain significance ★★ ⚠ same condition
MCIDAS p.Asp141Gly Uncertain significance ★★ ⚠ same condition
MCIDAS p.Pro364Arg Uncertain significance ★★ ⚠ same condition
MCIDAS p.Ser347Phe 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/mcidas-p-asp78 (accessed [today's date]).

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