Is ASPM p.Ser1193Pro (c.3577_3579delinsCCA) pathogenic?

ASPM p.Ser1193Pro (c.35773579delinsCCA) is classified Uncertain significance in ASPM (ClinVar, Single submitter, 1 submitter; last evaluated 2022-04-20). Absent from gnomAD; Associated with microcephaly 5, primary, autosomal recessive.

What condition is associated with ASPM p.Ser1193Pro (c.3577_3579delinsCCA)?

ASPM p.Ser1193Pro (c.3577_3579delinsCCA) is associated with microcephaly 5, primary, autosomal recessive (ClinVar).

How common is ASPM p.Ser1193Pro (c.3577_3579delinsCCA) in the general population?

ASPM p.Ser1193Pro (c.3577_3579delinsCCA) is absent from gnomAD (gnomAD).

ASPM p.Ser1193Pro

c.3577_3579delinsCCA · rs2527347036 · VCV2439266

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

microcephaly 5, primary, autosomal recessive

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.78	GERP -3.7, phastCons 0.96
Regional constraint	o/e 1.01	unconstrained · MANE · 59 kb · p 0.59 · regional, not allelic

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: ASPM
Protein: p.Ser1193Pro
Coding: c.3577_3579delinsCCA
MANE Select: NM_018136
dbSNP: rs2527347036
Type: Indel
Location: chr1:197122407 (GRCh38)
Gene constraint: LOEUF 0.766 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Residue 1193: the calponin-homology (ch) 2 domain

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

Disease context

microcephaly 5, primary, autosomal recessive — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

ASPM p.Ser1193= Benign ★★ same residue
ASPM p.Ile906fs Pathogenic ★ same condition
ASPM p.Lys2900fs Pathogenic ★ same condition
ASPM p.Ala84fs Likely pathogenic same condition
ASPM c.2419+2T>C Pathogenic/Likely pathogenic ★★ same condition
ASPM c.2488-1G>C Pathogenic/Likely pathogenic ★★ same condition
ASPM c.2936+5G>A Likely pathogenic ★★ same condition
ASPM c.3082+1G>C Pathogenic/Likely pathogenic ★★ 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/aspm-p-ser1193pro (accessed [today's date]).

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