Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_024665.7(TBL1XR1):c.710G>A (p.Gly237Asp)

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jun 17, 2021)
Last evaluated:
Apr 1, 2020
Accession:
VCV000917885.3
Variation ID:
917885
Description:
single nucleotide variant
Help

NM_024665.7(TBL1XR1):c.710G>A (p.Gly237Asp)

Allele ID
906205
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q26.32
Genomic location
3: 177047542 (GRCh38) GRCh38 UCSC
3: 176765330 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.176765330C>T
NC_000003.12:g.177047542C>T
NG_047195.1:g.154719G>A
... more HGVS
Protein change
G237D, G150D
Other names
-
Canonical SPDI
NC_000003.12:177047541:C:T
Functional consequence
probably has functional consequence
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Apr 1, 2020 RCV001175162.2
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TBL1XR1 Sufficient evidence for dosage pathogenicity Little evidence for dosage pathogenicity GRCh38
GRCh37
234 261

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Apr 01, 2020)
criteria provided, single submitter
Method: clinical testing
Pierpont syndrome
(Autosomal dominant inheritance)
Allele origin: de novo
Servicio Extremeño de Salud,Hospital de Mérida
Accession: SCV001298078.2
Submitted: (Jun 17, 2021)
Evidence details
Publications
DOI: 10.1111/cge.13937
Comment:
The G237D variant has been discovered in a boy with MR and characteristics of Pierpont Syndrome. The mutation is a missense "de novo" mutation as … (more)

Functional evidence

Help
Functional consequence Method Result Submitter Supporting information
probably has functional consequence
Servicio Extremeño de Salud,Hospital de Mérida
Accession: SCV001298078.2
Submitted: (Jun 17, 2021)
Evidence details
Publications
DOI: 10.1111/cge.13937

Citations for this variant

Help
Title Author Journal Year Link
- - - - DOI: 10.1111/cge.13937

Record last updated Sep 29, 2021