Is CARD19 p.Arg170Pro (c.509G>C) pathogenic?

CARD19 p.Arg170Pro (c.509G>C) is classified Uncertain significance in CARD19 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-03-01). Very rare (popmax 6.91e-05%).

How common is CARD19 p.Arg170Pro (c.509G>C) in the general population?

CARD19 p.Arg170Pro (c.509G>C) is very rare (popmax 6.91e-05%) (gnomAD).

CARD19 p.Arg170Pro

c.509G>C · rs150081862 · VCV2491910

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 6.91e-05%)

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.246	benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 6	GERP 0.19, phastCons 1
Regional constraint	o/e 0.97	unconstrained · MANE · 17 kb · p 0.69 · regional, not allelic
Overall
CADD	24.1	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 6.91e-05%

Overall 6.91e-05% 1/1,448,186 alleles · very rare

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: CARD19
Protein: p.Arg170Pro
Coding: c.509G>C
MANE Select: NM_032310
dbSNP: rs150081862
Type: single nucleotide variant
Location: chr9:93113064 (GRCh38)
Gene constraint: LOEUF 1.565 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 64.51 · 2 PDB

Full CARD19 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

CARD19 p.Arg170His Uncertain significance ★ same residue
CARD19 p.Ala83Asp Uncertain significance ★ ⚠ same type
CARD19 p.Arg121Lys Uncertain significance ★ same type
CARD19 p.Arg155Ser Uncertain significance ★ same type
CARD19 p.Arg166Thr Uncertain significance ★ same type
CARD19 p.Arg22Cys Uncertain significance ★ ⚠ same type
CARD19 p.Arg52Gln Uncertain significance ★ ⚠ same type
CARD19 p.Arg52Trp Uncertain significance ★ ⚠ same type

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/card19-p-arg170pro (accessed [today's date]).

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