Is DYNC1H1 p.Val2199fs (c.6595_6596del) pathogenic?

DYNC1H1 p.Val2199fs (c.65956596del) is classified Uncertain significance in DYNC1H1 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-09-22). No gnomAD frequency available for this variant; Associated with Inborn genetic diseases.

What condition is associated with DYNC1H1 p.Val2199fs (c.6595_6596del)?

DYNC1H1 p.Val2199fs (c.6595_6596del) is associated with Inborn genetic diseases (ClinVar).

How common is DYNC1H1 p.Val2199fs (c.6595_6596del) in the general population?

DYNC1H1 p.Val2199fs (c.6595_6596del) is no gnomAD frequency available for this variant (gnomAD).

DYNC1H1 p.Val2199fs

c.6595_6596del · rs2503753924 · VCV1754380

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Inborn genetic diseases

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a LoF-intolerant gene
NMD	predicted	premature termination codon in exon 32 of 78
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 1.2	GERP -2, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. 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: DYNC1H1
Protein: p.Val2199fs
Coding: c.6595_6596del
MANE Select: NM_001376
dbSNP: rs2503753924
Type: Deletion
Location: chr14:102010929 (GRCh38)
Gene constraint: LOEUF 0.117 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
Residue 2199: the 'aaa 2' region

Full DYNC1H1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

DYNC1H1 p.Asn4597fs Uncertain significance ★ same condition
DYNC1H1 p.Val2199Leu Uncertain significance ★ ⚠ same residue
DYNC1H1 p.Val2199= Likely benign ★ same residue
DYNC1H1 p.Arg1567Gln Pathogenic/Likely pathogenic ★★ same condition
DYNC1H1 p.Arg1962His Likely pathogenic ★★ same condition
DYNC1H1 p.Arg292Trp Pathogenic ★★ same condition
DYNC1H1 p.Gly2330Glu Pathogenic/Likely pathogenic ★★ same condition
DYNC1H1 p.Lys3254del 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/dync1h1-p-val2199fs (accessed [today's date]).

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