What condition is associated with CAMTA1 p.Ser450= (c.1350G>A)?

CAMTA1 p.Ser450= (c.1350G>A) is associated with cerebellar dysfunction with variable cognitive and behavioral abnormalities (ClinVar).

CAMTA1 p.Ser450=

Q: Is CAMTA1 p.Ser450= (c.1350G>A) pathogenic?

CAMTA1 p.Ser450= (c.1350G>A) is classified Benign in CAMTA1 (ClinVar, Multiple submitters, 7 submitters; last evaluated 2026-02-03). Common (popmax 48.4%, amr) — too common for a highly-penetrant pathogenic allele; Associated with cerebellar dysfunction with variable cognitive and behavioral abnormalities.

Q: How common is CAMTA1 p.Ser450= (c.1350G>A) in the general population?

CAMTA1 p.Ser450= (c.1350G>A) is common (popmax 48.4%, amr) — too common for a highly-penetrant pathogenic allele (gnomAD).

Q: How is Non-progressive cerebellar ataxia with intellectual disability inherited?

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

c.1350G>A · rs12128526 · VCV128564

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 7 submitters

gnomAD v4.1

Common

common (popmax 48.4%, amr) — too common for a highly-penetrant pathogenic allele

Conditions

cerebellar dysfunction with variable cognitive and behavioral abnormalities

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -3.3	GERP -4.4
Overall
CADD	3.122	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 48.4% Admixed American · 29,053/59,986 alleles

Filtering AF 48% ClinGen BA1/BS1 input FAF95, joint · FAF99 47.8%

Overall 44.8% 723,451/1,613,416 alleles · common

Ancestry group	Frequency	1 in
Finnishnot grpmax-eligible	51%	2
Admixed Americangrpmax	48.4%	2
European (non-Finnish)	45.9%	2
Remaining individualsnot grpmax-eligible	42.5%	2
South Asian	39%	3
Ashkenazi Jewishnot grpmax-eligible	38.9%	3
African / African-American	38%	3
East Asian	35.8%	3
Amishnot grpmax-eligible	34.1%	3
Middle Eastern	33.4%	3

Finnish shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.

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: CAMTA1
Protein: p.Ser450=
Coding: c.1350G>A
MANE Select: NM_015215
dbSNP: rs12128526
Type: single nucleotide variant
Location: chr1:7663897 (GRCh38)
Gene constraint: LOEUF 0.227 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 51.94 · 1 PDB

Full CAMTA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

cerebellar dysfunction with variable cognitive and behavioral abnormalities — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Non-progressive cerebellar ataxia with intellectual disability (Orphanet):

Inheritance: Autosomal dominant
Onset: Infancy, Neonatal

Similar variants

CAMTA1 p.Ser450Leu Likely benign ★ same residue
CAMTA1 c.3342+1G>T Likely pathogenic ★★ same condition
CAMTA1 c.4183-1G>A Likely pathogenic ★★ same condition
CAMTA1 p.Arg1048Ter Pathogenic ★★ same condition
CAMTA1 p.Arg1411Ter Pathogenic/Likely pathogenic ★★ same condition
CAMTA1 p.Arg1582Ter Pathogenic/Likely pathogenic ★★ same condition
CAMTA1 p.Arg1594Ter Pathogenic/Likely pathogenic ★★ same condition
CAMTA1 p.Arg1641Ter 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/camta1-p-ser450 (accessed [today's date]).

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