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_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp)

Help
Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Oct 9, 2020)
Last evaluated:
May 31, 2018
Accession:
VCV000155772.4
Variation ID:
155772
Description:
single nucleotide variant
Help

NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp)

Allele ID
165524
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q12.1
Genomic location
5: 61544156 (GRCh38) GRCh38 UCSC
5: 60839983 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
Q9HCJ5:p.Arg1163Trp
NC_000005.9:g.60839983C>T
NG_053150.1:g.216884C>T
... more HGVS
Protein change
R1163W
Other names
-
Canonical SPDI
NC_000005.10:61544155:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA170707
UniProtKB: Q9HCJ5#VAR_071802
OMIM: 615951.0001
dbSNP: rs587777695
VarSome
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ZSWIM6 - - GRCh38
GRCh37
93 115

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 23, 2014)
criteria provided, single submitter
Method: research
Acromelic frontonasal dysostosis
Allele origin: de novo
University of Washington Center for Mendelian Genomics, University of Washington
Accession: SCV000246129.1
Submitted: (Sep 14, 2015)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(May 31, 2018)
criteria provided, single submitter
Method: curation
Acromelic frontonasal dysostosis
Allele origin: unknown
SIB Swiss Institute of Bioinformatics
Accession: SCV000803459.1
Submitted: (Jun 13, 2018)
Evidence details
Publications
PubMed (2)
Comment:
This variant is interpreted as a Likely Pathogenic, for Acromelic frontonasal dysostosis, in Autosomal Dominant manner. The following ACMG Tag(s) were applied: PM6 => Assumed … (more)
Pathogenic
(Oct 11, 2017)
criteria provided, single submitter
Method: clinical testing
Acromelic frontonasal dysostosis
Allele origin: unknown
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
Study: Clinvar_gadteam_Clinical_exome_analysis_3
Accession: SCV000803852.1
Submitted: (Feb 06, 2018)
Evidence details
Pathogenic
(Oct 31, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000568856.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The R1163W variant in the ZSWIM6 gene has been reported previously in association with acromelic frontonasal dysostosis (Smith et al., 2014). The R1163W variant is … (more)
Pathogenic
(Apr 02, 2017)
criteria provided, single submitter
Method: clinical testing
Inborn genetic diseases
Allele origin: germline
Ambry Genetics
Accession: SCV000742103.2
Submitted: (Oct 09, 2020)
Evidence details
Pathogenic
(Aug 07, 2014)
no assertion criteria provided
Method: literature only
ACROMELIC FRONTONASAL DYSOSTOSIS
Allele origin: germline
OMIM
Accession: SCV000188733.3
Submitted: (Sep 03, 2014)
Evidence details
Publications
PubMed (2)
not provided
(-)
no assertion provided
Method: phenotyping only
Acromelic frontonasal dysostosis
Allele origin: unknown
GenomeConnect, ClinGen
Accession: SCV000986913.1
Submitted: (Jan 30, 2019)
Evidence details
Comment:
Variant interpretted as pathogenic and reported on 09/20/2018 by GTR ID 239772. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from … (more)

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
Title Author Journal Year Link
Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism. Twigg SR Clinical genetics 2016 PMID: 26706854
Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis. Smith JD American journal of human genetics 2014 PMID: 25105228

Text-mined citations for rs587777695...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021