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NM_000441.2(SLC26A4):c.2167C>G (p.His723Asp)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Apr 28, 2021)
Last evaluated:
Jun 4, 2019
Accession:
VCV000949741.3
Variation ID:
949741
Description:
single nucleotide variant
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NM_000441.2(SLC26A4):c.2167C>G (p.His723Asp)

Allele ID
924579
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q22.3
Genomic location
7: 107710131 (GRCh38) GRCh38 UCSC
7: 107350576 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.107350576C>G
NC_000007.14:g.107710131C>G
NG_008489.1:g.54497C>G
NM_000441.2:c.2167C>G MANE Select NP_000432.1:p.His723Asp missense
Protein change
H723D
Other names
-
Canonical SPDI
NC_000007.14:107710130:C:G
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 1 criteria provided, single submitter Jun 4, 2019 RCV001221275.2
Pathogenic 1 criteria provided, single submitter - RCV001375680.1
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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

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(-)
criteria provided, single submitter
Method: research
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
Allele origin: germline
Precision Medicine Center,Zhengzhou University
Accession: SCV001572600.1
Submitted: (Apr 28, 2021)
Evidence details
Comment:
PM2: gnomAD genomes East Asian allele frequency = 0.00005437<0.00007 PM3_VeryStrong: Pathogenic mutation confirmed in trans in two patients and phase unknown in four patients PM5: … (more)
Pathogenic
(Jun 04, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001393307.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (9)
Comment:
This sequence change replaces histidine with aspartic acid at codon 723 of the SLC26A4 protein (p.His723Asp). The histidine residue is highly conserved and there is … (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
Probing the Effect of Two Heterozygous Mutations in Codon 723 of SLC26A4 on Deafness Phenotype Based on Molecular Dynamics Simulations. Yao J Scientific reports 2015 PMID: 26035154
KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects. Zhao J PloS one 2014 PMID: 25372295
Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations. Song MH The Laryngoscope 2014 PMID: 24338212
Differences in the pathogenicity of the p.H723R mutation of the common deafness-associated SLC26A4 gene in humans and mice. Lu YC PloS one 2013 PMID: 23755160
A novel insertion-induced frameshift mutation of the SLC26A4 gene in a Korean family with Pendred syndrome. Sagong B Gene 2012 PMID: 22884721
Genetic diagnosis and cochlear implantation for patients with nonsyndromic hearing loss and enlarged vestibular aqueduct. Lai R The Journal of laryngology and otology 2012 PMID: 22289209
A patient with Pendred syndrome whose goiter progressed with normal serum thyrotropin and iodine organification. Asakura Y American journal of medical genetics. Part A 2010 PMID: 20583162
Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis. Dai P Journal of translational medicine 2008 PMID: 19040761
Long-term audiological feature in Pendred syndrome caused by PDS mutation. Iwasaki S Archives of otolaryngology--head & neck surgery 2001 PMID: 11405873

Record last updated Oct 08, 2021