Is LAMC2 p.Val855fs (c.2563_2564insA) pathogenic?

LAMC2 p.Val855fs (c.25632564insA) is classified Pathogenic in LAMC2 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-10-13). No gnomAD frequency available for this variant.

How common is LAMC2 p.Val855fs (c.2563_2564insA) in the general population?

LAMC2 p.Val855fs (c.2563_2564insA) is no gnomAD frequency available for this variant (gnomAD).

LAMC2 p.Val855fs

c.2563_2564insA · rs2526113347 · VCV2035473

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

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 17 of 23
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.069	GERP -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: LAMC2
Protein: p.Val855fs
Coding: c.2563_2564insA
MANE Select: NM_005562
dbSNP: rs2526113347
Type: Insertion
Location: chr1:183236566 (GRCh38)
Gene constraint: LOEUF 0.797 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 72.89
Residue 855: the 'domain ii and i' region

Full LAMC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

LAMC2 p.Val855= Likely benign ★ same residue
LAMC2 p.Ala374fs Likely pathogenic ★ same type
LAMC2 p.Ala443fs Likely pathogenic ★ same type
LAMC2 p.Ala491fs Likely pathogenic ★ same type
LAMC2 p.Asp276delinsLeuSerLeuIleIleTer Likely pathogenic ★ same type
LAMC2 p.His285fs Likely pathogenic ★ same type
LAMC2 c.641-295_641-294insG Benign ★ same type
LAMC2 p.Cys187Ter Likely 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/lamc2-p-val855fs (accessed [today's date]).

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