Is CAD p.Val357fs (c.1070_1071del) pathogenic?

CAD p.Val357fs (c.10701071del) is classified Likely pathogenic in CAD (ClinVar, Multiple submitters, 2 submitters; last evaluated 2023-03-08). Absent from gnomAD.

How common is CAD p.Val357fs (c.1070_1071del) in the general population?

CAD p.Val357fs (c.1070_1071del) is absent from gnomAD (gnomAD).

CAD p.Val357fs

c.1070_1071del · rs1572426165 · VCV817700

Likely pathogenic Multiple submitters

Classification

Likely pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a LoF-intolerant gene
NMD	predicted	premature termination codon in exon 8 of 44
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 6	GERP 2.2, 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: CAD
Protein: p.Val357fs
Coding: c.1070_1071del
MANE Select: NM_004341
dbSNP: rs1572426165
Type: Microsatellite
Location: chr2:27223989 (GRCh38)
Gene constraint: LOEUF 0.409 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 87.25 · 57 PDB
Residue 357: the glutamine amidotransferase type-1 domain; the 'gatase (glutamine amidotransferase)' region

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

Similar variants

CAD p.Val357= Likely benign ★★ same residue
CAD p.Val357Leu Uncertain significance ★ ⚠ same residue
CAD p.Glu1694del Uncertain significance ★★ same type
CAD c.2032-8_2032-6del Likely benign ★★ same type
CAD p.Arg1874fs Pathogenic ★ same type
CAD p.Phe312fs Pathogenic ★ same type
CAD p.Thr793fs Likely pathogenic ★ same type
CAD p.Val722fs Pathogenic ★ 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/cad-p-val357fs (accessed [today's date]).

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