Is PLN p.Arg13fs (c.35dup) pathogenic?

PLN p.Arg13fs (c.35dup) is classified Uncertain significance in PLN (ClinVar, Single submitter, 1 submitter; last evaluated 2021-04-14). Absent from gnomAD; Associated with Cardiovascular phenotype.

What condition is associated with PLN p.Arg13fs (c.35dup)?

PLN p.Arg13fs (c.35dup) is associated with Cardiovascular phenotype (ClinVar).

How common is PLN p.Arg13fs (c.35dup) in the general population?

PLN p.Arg13fs (c.35dup) is absent from gnomAD (gnomAD).

PLN p.Arg13fs

c.35dup · rs2534332653 · VCV1733072

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

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	escapes	premature termination codon in the last exon (2 of 2) — the truncated protein is likely expressed. PVS1 input, not an applied code
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 5.1	GERP 0.89, 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.Arg13fs
Coding: c.35dup
MANE Select: NM_002667
dbSNP: rs2534332653
Type: Duplication
Location: chr6:118558955 (GRCh38)
Gene constraint: LOEUF 1.704 · pLI 0.42 · ClinGen HI 1/3 (gnomAD)
Structure: AlphaFold pLDDT 81.81 · 7 PDB

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

Similar variants

PLN p.Ile12Thr Uncertain significance ★★ ⚠ same condition
PLN p.Ile12Val Uncertain significance ★★ ⚠ same condition
PLN p.Leu43fs Uncertain significance ★★ same condition
PLN p.Val49Met Uncertain significance ★★ ⚠ same condition
PLN p.Gln29Ter Conflicting classifications of pathogenicity ★ 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/pln-p-arg13fs (accessed [today's date]).

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