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_005585.5(SMAD6):c.692G>C (p.Arg231Pro)

Help
Interpretation:
Uncertain significance​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jun 4, 2020)
Last evaluated:
Jun 4, 2020
Accession:
VCV000590963.3
Variation ID:
590963
Description:
single nucleotide variant
Help

NM_005585.5(SMAD6):c.692G>C (p.Arg231Pro)

Allele ID
581906
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q22.31
Genomic location
15: 66703950 (GRCh38) GRCh38 UCSC
15: 66996288 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.66703950G>C
NC_000015.9:g.66996288G>C
NG_012244.1:g.6615G>C
... more HGVS
Protein change
R231P
Other names
-
Canonical SPDI
NC_000015.10:66703949:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1419095990
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 no assertion criteria provided Jun 4, 2020 RCV000770955.3
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SMAD6 - - GRCh38
GRCh37
268 284

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 04, 2020)
no assertion criteria provided
Method: research
Aortic valve disease 1
Allele origin: inherited
Centre of Medical Genetics, University of Antwerp
Accession: SCV000854417.2
Submitted: (Jun 04, 2020)
Evidence details

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
There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1419095990...

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 Sep 29, 2021