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NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: May 20, 2019)
Last evaluated:
Jan 1, 2019
Accession:
VCV000188950.5
Variation ID:
188950
Description:
single nucleotide variant
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NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter)

Allele ID
186726
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q22.3
Genomic location
7: 107663366 (GRCh38) GRCh38 UCSC
7: 107303811 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.107303811C>T
NC_000007.14:g.107663366C>T
NG_008489.1:g.7732C>T
NM_000441.2:c.235C>T MANE Select NP_000432.1:p.Arg79Ter nonsense
Protein change
R79*
Other names
-
Canonical SPDI
NC_000007.14:107663365:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA274174
dbSNP: rs786204581
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Dec 3, 2017 RCV000169324.2
Pathogenic 3 criteria provided, multiple submitters, no conflicts Jan 1, 2019 RCV000625825.5
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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

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Aug 28, 2014)
criteria provided, single submitter
Method: literature only
Pendred's syndrome
(Autosomal recessive inheritance)
Allele origin: unknown
Counsyl
Accession: SCV000220657.1
Submitted: (Mar 11, 2015)
Evidence details
Publications
PubMed (4)
Likely pathogenic
(Dec 03, 2017)
criteria provided, single submitter
Method: clinical testing
Pendred syndrome
Allele origin: inherited
Genomic Research Center,Shahid Beheshti University of Medical Sciences
Accession: SCV000746470.1
Submitted: (Dec 03, 2017)
Evidence details
Pathogenic
(-)
criteria provided, single submitter
Method: research
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
Allele origin: unknown
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University
Accession: SCV000924204.1
Submitted: (May 20, 2019)
Evidence details
Pathogenic
(Jan 01, 2019)
criteria provided, single submitter
Method: clinical testing
Enlarged vestibular aqueduct
Allele origin: inherited
Genomic Research Center,Shahid Beheshti University of Medical Sciences
Accession: SCV000746386.2
Submitted: (Apr 08, 2019)
Evidence details
Pathogenic
(Feb 26, 2019)
no assertion criteria provided
Method: case-control
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
Allele origin: inherited
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital
Accession: SCV000902380.1
Submitted: (Apr 29, 2019)
Evidence details

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
A rapid method for simultaneous multi-gene mutation screening in children with nonsyndromic hearing loss. Du W Genomics 2014 PMID: 25149764
Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or Pendred syndrome. Wu CC Audiology & neuro-otology 2010 PMID: 19648736
Application of SNaPshot multiplex assays for simultaneous multigene mutation screening in patients with idiopathic sensorineural hearing impairment. Wu CC The Laryngoscope 2009 PMID: 19718752
Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment. Kahrizi K European journal of pediatrics 2009 PMID: 18813951

Text-mined citations for rs786204581...

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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 Sep 29, 2021