Is TECTA p.Gly416fs (c.1247_1248del) pathogenic?

TECTA p.Gly416fs (c.12471248del) is classified Pathogenic/Likely pathogenic in TECTA (ClinVar, No assertion criteria, 2 submitters; last evaluated 2018-07-01). No gnomAD frequency available for this variant; Associated with autosomal recessive nonsyndromic hearing loss 21.

What condition is associated with TECTA p.Gly416fs (c.1247_1248del)?

TECTA p.Gly416fs (c.1247_1248del) is associated with autosomal recessive nonsyndromic hearing loss 21, hearing loss, autosomal recessive (ClinVar).

How common is TECTA p.Gly416fs (c.1247_1248del) in the general population?

TECTA p.Gly416fs (c.1247_1248del) is no gnomAD frequency available for this variant (gnomAD).

TECTA p.Gly416fs

c.1247_1248del · rs773573968 · VCV619173

Pathogenic/Likely pathogenic No assertion criteria

Classification

Pathogenic/Likely pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 2 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

autosomal recessive nonsyndromic hearing loss 21

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 8 of 24
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.8	GERP 0.29, 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: TECTA
Protein: p.Gly416fs
Coding: c.1247_1248del
MANE Select: NM_005422
dbSNP: rs773573968
Type: Deletion
Location: chr11:121125343 (GRCh38)
Gene constraint: LOEUF 0.661 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 77.64
Residue 416: the vwfd 1 domain

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

Disease context

autosomal recessive nonsyndromic hearing loss 21 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: hearing loss, autosomal recessive

Similar variants

TECTA p.Leu1005fs Pathogenic ★ same condition
TECTA p.Arg371Gly Benign ★★★ same condition
TECTA c.2367+2T>C Likely pathogenic ★★ same condition
TECTA p.Arg1174Ter Pathogenic ★★ same condition
TECTA p.Ala567Thr Uncertain significance ★★ ⚠ same condition
TECTA p.Arg284Cys Uncertain significance ★★ ⚠ same condition
TECTA p.Arg474Cys Uncertain significance ★★ ⚠ same condition
TECTA p.Cys1072= Uncertain significance ★★ 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/tecta-p-gly416fs (accessed [today's date]).

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