Is PLN p.Gln23= (c.69A>G) pathogenic?

PLN p.Gln23= (c.69A>G) is classified Likely benign in PLN (ClinVar, Multiple submitters, 2 submitters; last evaluated 2025-05-11). Very rare (popmax 0.00669%, eas); Associated with dilated cardiomyopathy 1P.

What condition is associated with PLN p.Gln23= (c.69A>G)?

PLN p.Gln23= (c.69A>G) is associated with dilated cardiomyopathy 1P (ClinVar).

How common is PLN p.Gln23= (c.69A>G) in the general population?

PLN p.Gln23= (c.69A>G) is very rare (popmax 0.00669%, eas) (gnomAD).

How is Familial isolated dilated cardiomyopathy inherited?

Typically Autosomal dominant, Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

PLN p.Gln23=

c.69A>G · rs775923421 · VCV2186050

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

very rare (popmax 0.00669%, eas)

Conditions

dilated cardiomyopathy 1P

⚠ 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
Pangolin	Δ0.28	gain · loss 0.00 · independent
Constraint at this position
Conservation	phyloP 2.2	GERP -1.8, phastCons 1
Overall
CADD	6.017	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00669% East Asian · 3/44,868 alleles

Filtering AF 0.00177% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000891%

Overall 0.000248% 4/1,611,440 alleles · very rare exomes 4/1,459,152 · genomes 0/152,288 · joint denominator

Ancestry group	Frequency	1 in
East Asiangrpmax	0.00669%	14,956
South Asian	0.0011%	91,000

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: PLN
Protein: p.Gln23=
Coding: c.69A>G
MANE Select: NM_002667
dbSNP: rs775923421
Type: single nucleotide variant
Location: chr6:118558990 (GRCh38)

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

Disease context

dilated cardiomyopathy 1P — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Familial isolated dilated cardiomyopathy (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive, Mitochondrial inheritance
Onset: All ages
Prevalence: 1-9 / 100 000 (Europe)

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-gln23 (accessed [today's date]).

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