Is TECTA p.Gly109= (c.327C>T) pathogenic?

TECTA p.Gly109= (c.327C>T) is classified Pathogenic/Likely pathogenic in TECTA (ClinVar, Multiple submitters, 8 submitters; last evaluated 2026-01-20). Ultra-rare (popmax 0.075%, amr); Associated with TECTA-related disorder.

What condition is associated with TECTA p.Gly109= (c.327C>T)?

TECTA p.Gly109= (c.327C>T) is associated with TECTA-related disorder, autosomal recessive nonsyndromic hearing loss 21 (ClinVar).

How common is TECTA p.Gly109= (c.327C>T) in the general population?

TECTA p.Gly109= (c.327C>T) is ultra-rare (popmax 0.075%, amr) (gnomAD).

TECTA p.Gly109=

c.327C>T · rs727504830 · VCV179381

Pathogenic/Likely pathogenic Multiple submitters

Classification

Pathogenic/Likely pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 8 submitters

gnomAD v4.1

Rare

ultra-rare (popmax 0.075%, amr)

Conditions

TECTA-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
Pangolin	Δ0.49	gain · loss 0.00 · independent
Constraint at this position
Conservation	phyloP -0.3	GERP 0.52, phastCons 0.068
Overall
CADD	18.4	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.075% Admixed American · 45/59,996 alleles

Filtering AF 0.0576% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0514%

Overall 0.00378% 61/1,613,988 alleles · ultra-rare exomes 25/1,461,880 · genomes 36/152,108 · joint denominator

Ancestry group	Frequency	1 in
Admixed Americangrpmax	0.075%	1,333
Remaining individualsnot grpmax-eligible	0.0144%	6,943
Ashkenazi Jewishnot grpmax-eligible	0.00338%	29,608
Finnishnot grpmax-eligible	0.00156%	64,012
African / African-American	0.00134%	74,886
European (non-Finnish)	0.000339%	295,009

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: TECTA
Protein: p.Gly109=
Coding: c.327C>T
MANE Select: NM_005422
dbSNP: rs727504830
Type: single nucleotide variant
Location: chr11:121109339 (GRCh38)

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

Disease context

TECTA-related disorder

Also linked: autosomal recessive nonsyndromic hearing loss 21

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/tecta-p-gly109 (accessed [today's date]).

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