Is LAMB3 p.Val976fs (c.2926del) pathogenic?

LAMB3 p.Val976fs (c.2926del) is classified Likely pathogenic in LAMB3 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-03-01). No gnomAD frequency available for this variant; Associated with amelogenesis imperfecta type 1A.

What condition is associated with LAMB3 p.Val976fs (c.2926del)?

LAMB3 p.Val976fs (c.2926del) is associated with amelogenesis imperfecta type 1A (ClinVar).

How common is LAMB3 p.Val976fs (c.2926del) in the general population?

LAMB3 p.Val976fs (c.2926del) is no gnomAD frequency available for this variant (gnomAD).

LAMB3 p.Val976fs

c.2926del · rs2464758865 · VCV2445230

Likely pathogenic Single submitter

Classification

Likely 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

amelogenesis imperfecta type 1A

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 20 of 23
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 4.7	GERP -0.61, 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: LAMB3
Protein: p.Val976fs
Coding: c.2926del
MANE Select: NM_000228
dbSNP: rs2464758865
Type: Deletion
Location: chr1:209618032 (GRCh38)
Gene constraint: LOEUF 0.829 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 78.55
Residue 976: the 'domain i' region

Full LAMB3 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

amelogenesis imperfecta type 1A — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

LAMB3 c.2911_2938del Pathogenic/Likely pathogenic ★★ same condition
LAMB3 p.Ala1055fs Pathogenic/Likely pathogenic ★★ same condition
LAMB3 p.Ala832fs Pathogenic/Likely pathogenic ★★ same condition
LAMB3 p.Asn456fs Pathogenic/Likely pathogenic ★★ same condition
LAMB3 p.Cys453fs Pathogenic/Likely pathogenic ★★ same condition
LAMB3 p.Gly530fs Pathogenic ★★ same condition
LAMB3 p.Gly558_Leu559insTer Pathogenic/Likely pathogenic ★★ same condition
LAMB3 p.His326fs 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/lamb3-p-val976fs (accessed [today's date]).

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