Is RYR2 p.Asp602= (c.1806C>T) pathogenic?

RYR2 p.Asp602= (c.1806C>T) is classified Likely benign in RYR2 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-10-23). No allele count reported in gnomAD v4.1 (AN 1,339,666); Associated with catecholaminergic polymorphic ventricular tachycardia.

What condition is associated with RYR2 p.Asp602= (c.1806C>T)?

RYR2 p.Asp602= (c.1806C>T) is associated with catecholaminergic polymorphic ventricular tachycardia (ClinVar).

How common is RYR2 p.Asp602= (c.1806C>T) in the general population?

RYR2 p.Asp602= (c.1806C>T) is no allele count reported in gnomAD v4.1 (AN 1,339,666) (gnomAD).

RYR2 p.Asp602=

Q: How is Catecholaminergic polymorphic ventricular tachycardia inherited?

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

c.1806C>T · rs2529113622 · VCV3074154

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,339,666)

Conditions

catecholaminergic polymorphic ventricular tachycardia

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP -0.099	GERP -1.1, phastCons 0.52
Overall
CADD	8.185	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,339,666). 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: RYR2
Protein: p.Asp602=
Coding: c.1806C>T
MANE Select: NM_001035
dbSNP: rs2529113622
Type: single nucleotide variant
Location: chr1:237491903 (GRCh38)
Gene constraint: LOEUF 0.424 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
Residue 602: the b30.2/spry 1 domain; an α-helix

Full RYR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

catecholaminergic polymorphic ventricular tachycardia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Catecholaminergic polymorphic ventricular tachycardia (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive
Onset: Adolescent, Adult, Childhood
Prevalence: 1-5 / 10 000 (Europe)

Similar variants

RYR2 p.Asp602Glu Uncertain significance ★ ⚠ same residue
RYR2 p.Ala2387Thr Pathogenic/Likely pathogenic ★★ same condition
RYR2 p.Arg169Gln Pathogenic/Likely pathogenic ★★ same condition
RYR2 p.Arg420Trp Pathogenic ★★ same condition
RYR2 p.Ile4867Thr Pathogenic/Likely pathogenic ★★ same condition
RYR2 p.Leu433Pro Pathogenic ★★ same condition
RYR2 p.Tyr4725Cys Pathogenic/Likely pathogenic ★★ same condition
RYR2 c.10494+1G>T 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/ryr2-p-asp602 (accessed [today's date]).

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