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NM_001126108.2(SLC12A3):c.2186G>T (p.Gly729Val)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 30, 2020
Accession:
VCV000994770.2
Variation ID:
994770
Description:
single nucleotide variant
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NM_001126108.2(SLC12A3):c.2186G>T (p.Gly729Val)

Allele ID
983017
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q13
Genomic location
16: 56887932 (GRCh38) GRCh38 UCSC
16: 56921844 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.9:g.56921844G>T
NC_000016.10:g.56887932G>T
NM_001126108.2:c.2186G>T MANE Select NP_001119580.2:p.Gly729Val missense
... more HGVS
Protein change
G728V, G729V
Other names
-
Canonical SPDI
NC_000016.10:56887931:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Jul 30, 2020 RCV001288429.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SLC12A3 - - GRCh38
GRCh37
663 689

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 24, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001475520.1
Submitted: (Dec 30, 2020)
Evidence details
Publications
PubMed (6)
Comment:
The frequency of this variant in the general population is consistent with pathogenicity. Found in at least one patient with expected phenotype for this gene. … (more)
Likely pathogenic
(Jul 30, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001577607.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change replaces glycine with valine at codon 729 of the SLC12A3 protein (p.Gly729Val). The glycine residue is highly conserved and there is a … (more)

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
High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults. Hureaux M Kidney international 2019 PMID: 31672324
Genetic Analysis of SLC12A3 Gene in Chinese Patients with Gitelman Syndrome. Zeng Y Medical science monitor : international medical journal of experimental and clinical research 2019 PMID: 31398183
Spectrum of mutations in Gitelman syndrome. Vargas-Poussou R Journal of the American Society of Nephrology : JASN 2011 PMID: 21415153
Eplerenone for gitelman syndrome in pregnancy. Morton A Nephrology (Carlton, Vic.) 2011 PMID: 21342329
Eplerenone in the treatment of Gitelman's syndrome. Morton A Internal medicine journal 2008 PMID: 18402569
Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes. Fava C DNA sequence : the journal of DNA sequencing and mapping 2007 PMID: 17654016
Outcome of pregnancy in a patient with Gitelman syndrome: a case report. Talaulikar GS Nephron. Physiology 2005 PMID: 15976513
Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life. Cruz DN Kidney international 2001 PMID: 11168953

Record last updated May 13, 2021