Is MYPN p.Arg34= (c.100C>A) pathogenic?

MYPN p.Arg34= (c.100C>A) is classified Likely benign in MYPN (ClinVar, Single submitter, 1 submitter; last evaluated 2023-10-28). Absent from gnomAD v4.1; Associated with dilated cardiomyopathy 1KK.

What condition is associated with MYPN p.Arg34= (c.100C>A)?

MYPN p.Arg34= (c.100C>A) is associated with dilated cardiomyopathy 1KK (ClinVar).

How common is MYPN p.Arg34= (c.100C>A) in the general population?

MYPN p.Arg34= (c.100C>A) is absent from gnomAD v4.1 (gnomAD).

MYPN p.Arg34=

c.100C>A · rs746431976 · VCV2768460

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

dilated cardiomyopathy 1KK

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 2.7	GERP 2.1, phastCons 1
Overall
CADD	11.59	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: MYPN
Protein: p.Arg34=
Coding: c.100C>A
MANE Select: NM_032578
dbSNP: rs746431976
Type: single nucleotide variant
Location: chr10:68121538 (GRCh38)
Gene constraint: LOEUF 0.596 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 52.71
Residue 34: the 'interaction with carp' region; the 'disordered' region

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

Disease context

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

Similar variants

MYPN p.Arg34Gln Uncertain significance ★★ ⚠ same residue
MYPN p.Arg34Gly Uncertain significance ★ ⚠ same residue
MYPN c.1317+1G>A Likely pathogenic ★★ same condition
MYPN p.Arg1072Ter Pathogenic ★★ same condition
MYPN p.Arg489Ter Pathogenic ★★ same condition
MYPN p.Arg996Ter Pathogenic/Likely pathogenic ★★ same condition
MYPN c.1130+3A>C Uncertain significance ★★ same condition
MYPN c.1974-3C>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/mypn-p-arg34 (accessed [today's date]).

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