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NM_000441.2(SLC26A4):c.128G>A (p.Arg43His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Mar 21, 2019)
Last evaluated:
Dec 29, 2016
Accession:
VCV000504923.2
Variation ID:
504923
Description:
single nucleotide variant
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NM_000441.2(SLC26A4):c.128G>A (p.Arg43His)

Allele ID
496881
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q22.3
Genomic location
7: 107661769 (GRCh38) GRCh38 UCSC
7: 107302214 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.107302214G>A
NC_000007.14:g.107661769G>A
NM_000441.2:c.128G>A MANE Select NP_000432.1:p.Arg43His missense
... more HGVS
Protein change
R43H
Other names
-
Canonical SPDI
NC_000007.14:107661768:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00024
The Genome Aggregation Database (gnomAD) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00010
Links
ClinGen: CA4432368
dbSNP: rs372116042
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Apr 21, 2016 RCV000611863.1
Uncertain significance 1 criteria provided, single submitter Dec 29, 2016 RCV000664751.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SLC26A4 - - GRCh38
GRCh37
749 825
SLC26A4-AS1 - - - GRCh38 - 62

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 29, 2016)
criteria provided, single submitter
Method: clinical testing
Pendred syndrome
Allele origin: unknown
Counsyl
Accession: SCV000788760.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Apr 21, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000711954.2
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The p.Arg43His variant in SLC26A4 has not been previously reported in individual s with cardiomyopathy but has been identified in 3/8246 of European chromosomes by … (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
Etiology and audiological outcomes at 3 years for 364 children in Australia. Dahl HH PloS one 2013 PMID: 23555729

Text-mined citations for rs372116042...

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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 Jul 07, 2021