Is DSP p.Arg44Trp (c.130C>T) pathogenic?

DSP p.Arg44Trp (c.130C>T) is classified Conflicting classifications of pathogenicity in DSP (ClinVar, Conflicting submitters, 5 submitters; last evaluated 2025-12-08). AlphaMissense: likely benign (0.2037); Very rare (popmax 0.00184%, amr); Associated with cardiomyopathy.

How common is DSP p.Arg44Trp (c.130C>T) in the general population?

DSP p.Arg44Trp (c.130C>T) is very rare (popmax 0.00184%, amr) (gnomAD).

What do computational predictors say about DSP p.Arg44Trp (c.130C>T)?

AlphaMissense predicts likely benign (score 0.2037) — an in-silico prediction, not a clinical call.

DSP p.Arg44Trp

Q: What condition is associated with DSP p.Arg44Trp (c.130C>T)?

DSP p.Arg44Trp (c.130C>T) is associated with cardiomyopathy, arrhythmogenic cardiomyopathy with wooly hair and keratoderma, arrhythmogenic right ventricular dysplasia 8 (ClinVar).

c.130C>T · rs1255744065 · VCV923953

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 5 submitters

AlphaMissense

likely benign

0.2037 · ACMG-weighted

gnomAD v4.1

Rare

very rare (popmax 0.00184%, amr)

Conditions

cardiomyopathy

Computational evidence

Protein change
AlphaMissense	0.2037	likely benign
REVEL	0.318	indeterminate
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 1.7	GERP 2.1, phastCons 0.99
Regional constraint	o/e 0.94	unconstrained · MANE · 29 kb · p 0.14 · regional, not allelic
Overall
CADD	24.0	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00184% Admixed American · 1/54,330 alleles

Filtering AF 0.00097% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0008%

Overall 0.00121% 19/1,573,584 alleles · very rare

Ancestry group	Frequency	1 in
Admixed Americangrpmax	0.00184%	54,330
European (non-Finnish)	0.00155%	64,455

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: DSP
Protein: p.Arg44Trp
Coding: c.130C>T
dbSNP: rs1255744065
Type: single nucleotide variant
Location: chr6:7542045 (GRCh38)

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

Disease context

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

Also linked: arrhythmogenic cardiomyopathy with wooly hair and keratoderma arrhythmogenic right ventricular dysplasia 8

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/dsp-p-arg44trp (accessed [today's date]).

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