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NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jul 20, 2021)
Last evaluated:
Aug 6, 2020
Accession:
VCV000597784.3
Variation ID:
597784
Description:
single nucleotide variant
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NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser)

Allele ID
588845
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q22.3
Genomic location
7: 107700141 (GRCh38) GRCh38 UCSC
7: 107340586 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.107340586A>G
NC_000007.14:g.107700141A>G
NG_008489.1:g.44507A>G
NM_000441.2:c.1673A>G MANE Select NP_000432.1:p.Asn558Ser missense
Protein change
N558S
Other names
-
Canonical SPDI
NC_000007.14:107700140:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00004
Links
dbSNP: rs766206507
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, multiple submitters, no conflicts Aug 6, 2020 RCV000734009.3
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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
Uncertain significance
(Jul 12, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000862118.1
Submitted: (Sep 19, 2018)
Evidence details
Publications
PubMed (1)
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Aug 06, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001758466.1
Submitted: (Jul 20, 2021)
Evidence details
Comment:
In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 28964290)

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
Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort. Cengiz FB International journal of pediatric otorhinolaryngology 2017 PMID: 28964290
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SLC26A4 - - - -

Text-mined citations for rs766206507...

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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 23, 2021