Is PLN p.Val4fs (c.9dup) pathogenic?

PLN p.Val4fs (c.9dup) is classified Conflicting classifications of pathogenicity in PLN (ClinVar, Conflicting submitters, 2 submitters; last evaluated 2026-05-12). No gnomAD frequency available for this variant; Associated with Cardiovascular phenotype.

What condition is associated with PLN p.Val4fs (c.9dup)?

PLN p.Val4fs (c.9dup) is associated with Cardiovascular phenotype, dilated cardiomyopathy 1P (ClinVar).

How common is PLN p.Val4fs (c.9dup) in the general population?

PLN p.Val4fs (c.9dup) is no gnomAD frequency available for this variant (gnomAD).

PLN p.Val4fs

c.9dup · rs2114969441 · VCV1072579

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 2 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Cardiovascular phenotype

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function; NMD-escape possible for C-terminal truncations
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 2.6	GERP -1.4, 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: PLN
Protein: p.Val4fs
Coding: c.9dup
MANE Select: NM_001042475 · reported on NM_002667
dbSNP: rs2114969441
Type: Duplication
Location: chr6:118558927 (GRCh38)

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

Disease context

Cardiovascular phenotype — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: dilated cardiomyopathy 1P

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/pln-p-val4fs (accessed [today's date]).

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