Is DSP p.Gly35Val (c.104G>T) pathogenic?

DSP p.Gly35Val (c.104G>T) is classified Uncertain significance in DSP (ClinVar, Single submitter, 1 submitter; last evaluated 2025-09-09). AlphaMissense: likely benign (0.1398); Absent from gnomAD v4.1; Associated with cardiomyopathy.

What condition is associated with DSP p.Gly35Val (c.104G>T)?

DSP p.Gly35Val (c.104G>T) is associated with cardiomyopathy (ClinVar).

How common is DSP p.Gly35Val (c.104G>T) in the general population?

DSP p.Gly35Val (c.104G>T) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about DSP p.Gly35Val (c.104G>T)?

AlphaMissense predicts likely benign (score 0.1398) — an in-silico prediction, not a clinical call.

DSP p.Gly35Val

c.104G>T · VCV4756450

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.1398 · ACMG-weighted

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,585,600)

Conditions

cardiomyopathy

Computational evidence

Protein change
AlphaMissense	0.1398	likely benign
REVEL	0.366	indeterminate
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 4.4	GERP 2, phastCons 1
Regional constraint	o/e 0.94	unconstrained · MANE · 29 kb · p 0.14 · regional, not allelic
Overall
CADD	18.28	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

No allele count reported in gnomAD v4.1 (AN 1,585,600). 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: DSP
Protein: p.Gly35Val
Coding: c.104G>T
MANE Select: NM_004415
Type: single nucleotide variant
Location: chr6:7542019 (GRCh38)
Gene constraint: LOEUF 0.443 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Residue 35: the 'globular 1' region; the 'interaction with mapre1' region; the 'interaction with jup and pkp2' region

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

Similar variants

DSP p.Gly35= Benign/Likely benign ★★ same residue
DSP p.Gly35Ala Conflicting classifications of pathogenicity ★ same residue
DSP p.Gly35Arg Uncertain significance ★ same residue
DSP c.2130+1G>A Pathogenic/Likely pathogenic ★★ same condition
DSP c.2437-1G>C Likely pathogenic ★★ same condition
DSP c.273+1G>A Pathogenic/Likely pathogenic ★★ same condition
DSP c.939+1G>A Pathogenic/Likely pathogenic ★★ same condition
DSP p.Arg1113Ter Pathogenic/Likely pathogenic ★★ 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/dsp-p-gly35val (accessed [today's date]).

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