Variant
BTD W366X
NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter)
- p.Trp366Ter
- p.W366*
- rs397514434
- ClinVar classification
- Pathogenic
- Review status
- 2 stars out of 4criteria provided, multiple submitters, no conflicts
- Last evaluated
- 28 July 2025
Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bfFacts last changed 16 October 2026
Summary
W366X is a nonsense variant in BTD: it creates an early stop signal, so the protein the gene encodes is predicted to be cut short. ClinVar classifies it as pathogenic for biotinidase deficiency (criteria provided, multiple submitters, no conflicts).
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| biotinidase deficiencyClinVar VCV000038569 (opens in a new tab) | Pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 3 submissions | 28 July 2025 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Where it lies in BTD
W366X lies in exon 4 of the 4 in BTD's MANE Select transcript, NM_001370658.1.
Molecular details
| Gene | BTD |
|---|---|
| Transcript | NM_001370658.1MANE Select |
| Coding DNA change (HGVS c.) | c.1098G>A |
| Protein change (HGVS p.) | p.Trp366Terp.W366* |
| Predicted consequence | Nonsense (stop gained)stop_gained (opens in a new tab) |
| Predicted impact | High |
| Position (GRCh38) | chr3:15645014 G>A |
| Position (GRCh37) | chr3:15686521 G>A |
| dbSNP ID | rs397514434 (opens in a new tab) |
| ClinVar Variation ID | VCV000038569 (opens in a new tab) |
| ClinVar Allele ID | 47160 |
| ClinGen Allele Registry ID | CA278383 (opens in a new tab) |
| ClinVar name | NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter) |
BTD W366X in other databases
Reports that look at this variant (1)
These Genome Test condition reports include W366X among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Biotinidase & Holocarboxylase Deficiency | Biotinidase and Holocarboxylase Synthetase Deficiency (Multiple Carboxylase Deficiency) | Autosomal recessive |
Other variants in BTD
- A142VPathogenic/likely pathogenic2 stars out of 4
- A217TPathogenic/likely pathogenic2 stars out of 4
- A269VPathogenic/likely pathogenic2 stars out of 4
- A279PPathogenic/likely pathogenic2 stars out of 4
- A419DPathogenic2 stars out of 4
- A458PPathogenic/likely pathogenic2 stars out of 4
- c.-17+1G>APathogenic/likely pathogenic2 stars out of 4
- c.-17+2T>CPathogenic/likely pathogenic2 stars out of 4
- c.250-15delPathogenic/likely pathogenic2 stars out of 4
- c.359G>APathogenic2 stars out of 4
Limitations
This page describes publicly available information about a genetic variant. It is not a diagnosis, and it says nothing about whether you or anyone else carries this variant.
Classifications come from ClinVar and change as new evidence is reviewed. A classification here may differ from the one in ClinVar today, or from the one a laboratory reports.
Whole genome sequencing with short reads can miss or miscall some variants, particularly in repeated or highly similar stretches of DNA and in large insertions, deletions or rearrangements.
If you have questions about a variant in your own results or in your family, talk to a genetic counsellor or your doctor.
Sources & credits
- Classifications from ClinVar (release 2026-10-12), National Center for Biotechnology Information.
- Condition terms from the Mondo Disease Ontology (release 2026-10-06), used under CC BY 4.0.
- Gene symbols and names from the HUGO Gene Nomenclature Committee (release 2026-10-16).
- Allele identifiers from the ClinGen Allele Registry (release 2026-10-16-c4908f54).
- Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information.
- Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-16).
- Difficult regions from the Genome in a Bottle Consortium (release v3.6).
- Transcripts from MANE (release v1.5), NCBI and EMBL-EBI.
- Predicted consequences from mehari (release 0.11.0), with transcript models from cdot.
- Built from Dante Labs data release 2026.10.16-c6eea6bf of 16 October 2026.
Cite this page
Dante Labs. (16 October 2026). BTD W366X (c.1098G>A, rs397514434) (Version 2026.10.16-c6eea6bf). Retrieved 17 October 2026, from https://dantelabs.com/genes/btd/variants/w366x
Dante Labs. BTD W366X (c.1098G>A, rs397514434) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 17 October 2026]. Available from: https://dantelabs.com/genes/btd/variants/w366x
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