Is SIX5 p.Val94= (c.282C>G) pathogenic?

SIX5 p.Val94= (c.282C>G) is classified Likely benign in SIX5 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2020-03-05). No allele count reported in gnomAD v4.1 (AN 1,379,288); Associated with SIX5-related disorder.

What condition is associated with SIX5 p.Val94= (c.282C>G)?

SIX5 p.Val94= (c.282C>G) is associated with SIX5-related disorder (ClinVar).

How common is SIX5 p.Val94= (c.282C>G) in the general population?

SIX5 p.Val94= (c.282C>G) is no allele count reported in gnomAD v4.1 (AN 1,379,288) (gnomAD).

SIX5 p.Val94=

c.282C>G · VCV3346907

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,379,288)

Conditions

SIX5-related disorder

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP -1	GERP -4.1
Overall
CADD	4.727	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,379,288). 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: SIX5
Protein: p.Val94=
Coding: c.282C>G
MANE Select: NM_175875
Type: single nucleotide variant
Location: chr19:45768563 (GRCh38)

Full SIX5 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

SIX5-related disorder

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/six5-p-val94 (accessed [today's date]).

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