Is DYNLT2B p.Val92Ala (c.275T>C) pathogenic?

DYNLT2B p.Val92Ala (c.275T>C) is classified Uncertain significance in DYNLT2B (ClinVar, Single submitter, 1 submitter; last evaluated 2022-07-19). AlphaMissense: ambiguous (0.5472); Absent from gnomAD v4.1.

How common is DYNLT2B p.Val92Ala (c.275T>C) in the general population?

DYNLT2B p.Val92Ala (c.275T>C) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about DYNLT2B p.Val92Ala (c.275T>C)?

AlphaMissense predicts ambiguous (score 0.5472) — an in-silico prediction, not a clinical call.

DYNLT2B p.Val92Ala

c.275T>C · rs2474092574 · VCV1976169

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

ambiguous

0.5472 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Computational evidence

Protein change
AlphaMissense	0.5472	ambiguous
REVEL	0.38	indeterminate
SaProt	LLR -10.27	damaging
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 11	GERP 2.7, phastCons 1
Regional constraint	o/e 0.76	unconstrained · MANE · 27 kb · p 0.0016 · regional, not allelic
Overall
CADD	26.6	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

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: DYNLT2B
Protein: p.Val92Ala
Coding: c.275T>C
MANE Select: NM_152773
dbSNP: rs2474092574
Type: single nucleotide variant
Location: chr3:196306985 (GRCh38)
Gene constraint: LOEUF 1.236 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 86.89 · 2 PDB
Residue 92: a UniProt-annotated variant site (in srtd17); a β-strand

Full DYNLT2B gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

DYNLT2B p.Arg88Ter Pathogenic/Likely pathogenic ★★ same type
DYNLT2B p.Arg110His Uncertain significance ★★ same type
DYNLT2B p.Asn119Ser Uncertain significance ★★ ⚠ same type
DYNLT2B p.Gly6Arg Uncertain significance ★★ ⚠ same type
DYNLT2B p.Gly6Val Uncertain significance ★★ ⚠ same type
DYNLT2B p.Ser4Thr Uncertain significance ★★ ⚠ same type
DYNLT2B p.Val95Leu Uncertain significance ★★ ⚠ same type
DYNLT2B c.113+17C>G Benign ★★ 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/dynlt2b-p-val92ala (accessed [today's date]).

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