Is CDC14A p.Ala451fs (c.1351_1352del) pathogenic?

CDC14A p.Ala451fs (c.13511352del) is classified Pathogenic in CDC14A (ClinVar, Single submitter, 1 submitter; last evaluated 2019-04-30). Absent from gnomAD; Associated with sensorineural hearing loss disorder.

What condition is associated with CDC14A p.Ala451fs (c.1351_1352del)?

CDC14A p.Ala451fs (c.1351_1352del) is associated with sensorineural hearing loss disorder (ClinVar).

How common is CDC14A p.Ala451fs (c.1351_1352del) in the general population?

CDC14A p.Ala451fs (c.1351_1352del) is absent from gnomAD (gnomAD).

CDC14A p.Ala451fs

c.1351_1352del · rs1571346132 · VCV691620

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

sensorineural hearing loss disorder

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 14 of 16
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 3	GERP 0.35, 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: CDC14A
Protein: p.Ala451fs
Coding: c.1351_1352del
MANE Select: NM_003672
dbSNP: rs1571346132
Type: Deletion
Location: chr1:100498137 (GRCh38)
Gene constraint: LOEUF 1.141 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 73.77
Residue 451: a UniProt-annotated variant site (in dfnb32)

Full CDC14A gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

sensorineural hearing loss disorder — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

CDC14A p.Tyr126fs Pathogenic ★ same type
CDC14A c.1299-2del Uncertain significance ★ same type
CDC14A c.1755+108del Uncertain significance ★ same type
CDC14A p.Ala458fs Uncertain significance ★ same type
CDC14A p.Ile183_Val184del Uncertain significance ★ same type
CDC14A p.Pro205del Uncertain significance ★ same type
CDC14A p.Ser575fs Uncertain significance ★ same type
CDC14A p.Tyr232fs Conflicting classifications of pathogenicity ★ same type

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/cdc14a-p-ala451fs (accessed [today's date]).

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