Is PLN p.Ala15= (c.45C>A) pathogenic?

PLN p.Ala15= (c.45C>A) is classified Likely benign in PLN (ClinVar, Multiple submitters, 2 submitters; last evaluated 2023-06-14). Absent from gnomAD v4.1; Associated with Cardiovascular phenotype.

What condition is associated with PLN p.Ala15= (c.45C>A)?

PLN p.Ala15= (c.45C>A) is associated with Cardiovascular phenotype, dilated cardiomyopathy 1P (ClinVar).

How common is PLN p.Ala15= (c.45C>A) in the general population?

PLN p.Ala15= (c.45C>A) is absent from gnomAD v4.1 (gnomAD).

PLN p.Ala15=

c.45C>A · rs1229885229 · VCV2145755

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

Cardiovascular phenotype

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP -0.036	GERP -1.8, phastCons 0.79
Overall
CADD	8.463	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: PLN
Protein: p.Ala15=
Coding: c.45C>A
MANE Select: NM_002667
dbSNP: rs1229885229
Type: single nucleotide variant
Location: chr6:118558966 (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-ala15 (accessed [today's date]).

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