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NM_000111.3(SLC26A3):c.392C>G (p.Pro131Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Feb 1, 2019)
Last evaluated:
Apr 28, 2017
Accession:
VCV000055999.2
Variation ID:
55999
Description:
single nucleotide variant
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NM_000111.3(SLC26A3):c.392C>G (p.Pro131Arg)

Allele ID
70638
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q22.3
Genomic location
7: 107791226 (GRCh38) GRCh38 UCSC
7: 107431671 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P40879:p.Pro131Arg
NC_000007.13:g.107431671G>C
NC_000007.14:g.107791226G>C
... more HGVS
Protein change
P131R
Other names
-
Canonical SPDI
NC_000007.14:107791225:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs386833481
ClinGen: CA144097
UniProtKB: P40879#VAR_007430
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, single submitter Apr 28, 2017 RCV000049408.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SLC26A3 - - GRCh38
GRCh37
172 194

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 28, 2017)
criteria provided, single submitter
Method: clinical testing
Congenital secretory diarrhea, chloride type
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000915195.1
Submitted: (Feb 01, 2019)
Evidence details
Publications
PubMed (2)
Comment:
The SLC26A3 c.392C>G (p.Pro131Arg) variant is a missense variant that has been reported in two studies in a total of three unrelated individuals with familial … (more)
probable-pathogenic
(-)
no assertion criteria provided
Method: not provided
Congenital secretory diarrhea, chloride type
Allele origin: not provided
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)
Accession: SCV000081841.1
Submitted: (May 19, 2013)
Comment:
FinDis database variant: This variant was not found or characterized by our laboratory, data were collected from public sources: see reference
Evidence details
Comment:
Converted during submission to Likely pathogenic.

Functional evidence

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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

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Title Author Journal Year Link
Proton pump inhibitor treatment for congenital chloride diarrhea. Pieroni KP Digestive diseases and sciences 2011 PMID: 21127979
Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene. Höglund P Human mutation 1998 PMID: 9554749

Text-mined citations for rs386833481...

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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 24, 2021