Is PRDM16 p.Arg810fs (c.2428dup) pathogenic?

PRDM16 p.Arg810fs (c.2428dup) is classified Uncertain significance in PRDM16 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-03-08). No gnomAD frequency available for this variant; Associated with left ventricular noncompaction 8.

What condition is associated with PRDM16 p.Arg810fs (c.2428dup)?

PRDM16 p.Arg810fs (c.2428dup) is associated with left ventricular noncompaction 8 (ClinVar).

How common is PRDM16 p.Arg810fs (c.2428dup) in the general population?

PRDM16 p.Arg810fs (c.2428dup) is no gnomAD frequency available for this variant (gnomAD).

How is Left ventricular noncompaction inherited?

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

PRDM16 p.Arg810fs

c.2428dup · rs2523887259 · VCV2089243

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

left ventricular noncompaction 8

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a LoF-intolerant gene
NMD	predicted	premature termination codon in exon 9 of 17
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 8.3	GERP 1.1, 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: PRDM16
Protein: p.Arg810fs
Coding: c.2428dup
MANE Select: NM_022114
dbSNP: rs2523887259
Type: Duplication
Location: chr1:3412623 (GRCh38)
Gene constraint: LOEUF 0.304 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 51.73 · 2 PDB
Residue 810: the 'interaction with ctbp1, ctbp2 and znf516' region; the 'mediates interaction with ski and regulation of tgf-beta signaling' region; a UniProt-annotated variant site (in lvnc8)

Full PRDM16 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

left ventricular noncompaction 8 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Left ventricular noncompaction (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive, Mitochondrial inheritance
Onset: All ages

Similar variants

PRDM16 p.Arg810Trp Uncertain significance ★★ ⚠ same residue
PRDM16 p.Arg810Gln Uncertain significance ★ ⚠ same residue
PRDM16 p.Arg525fs Pathogenic ★★ same condition
PRDM16 p.Gln841_Val842dup Uncertain significance ★★ same condition
PRDM16 c.677-16_677-11dup Benign/Likely benign ★★ same condition
PRDM16 c.884+8_884+38dup Uncertain significance ★ same condition
PRDM16 p.Gln353fs Uncertain significance ★ same condition
PRDM16 p.Gly838_Gln841dup Uncertain significance ★ 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/prdm16-p-arg810fs (accessed [today's date]).

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