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NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Dec 28, 2020)
Last evaluated:
Feb 6, 2017
Accession:
VCV000043550.3
Variation ID:
43550
Description:
single nucleotide variant
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NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr)

Allele ID
52719
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q22.3
Genomic location
7: 107661669 (GRCh38) GRCh38 UCSC
7: 107302114 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.107302114C>A
NC_000007.14:g.107661669C>A
NM_000441.2:c.28C>A MANE Select NP_000432.1:p.Pro10Thr missense
... more HGVS
Protein change
P10T
Other names
-
Canonical SPDI
NC_000007.14:107661668:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
1000 Genomes Project 0.00020
Exome Aggregation Consortium (ExAC) 0.00042
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00041
Trans-Omics for Precision Medicine (TOPMed) 0.00080
The Genome Aggregation Database (gnomAD), exomes 0.00016
The Genome Aggregation Database (gnomAD) 0.00051
Links
ClinGen: CA132721
dbSNP: rs200102493
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 Jan 29, 2013 RCV000036486.4
Uncertain significance 2 criteria provided, single submitter Feb 3, 2017 RCV000665402.2
Uncertain significance 1 criteria provided, single submitter Feb 6, 2017 RCV000723704.1
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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
(Feb 06, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000700620.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Feb 03, 2017)
criteria provided, single submitter
Method: clinical testing
Pendred syndrome
Allele origin: unknown
Counsyl
Accession: SCV000789519.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (2)
Uncertain significance
(Jan 29, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000060141.6
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (1)
Comment:
Variant classified as Uncertain Significance - Favor Benign. The Pro10Thr varian t in SLC26A4 has been reported in one individual with enlarged vestibular aquedu ct … (more)
Uncertain significance
(Jan 07, 2020)
no assertion criteria provided
Method: clinical testing
Pendred syndrome
Allele origin: germline
Natera, Inc.
Accession: SCV001459859.1
Submitted: (Dec 28, 2020)
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
Significance of unilateral enlarged vestibular aqueduct. Greinwald J The Laryngoscope 2013 PMID: 23401162
The influence of mutations in the SLC26A4 gene on the temporal bone in a population with enlarged vestibular aqueduct. Madden C Archives of otolaryngology--head & neck surgery 2007 PMID: 17309986
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SLC26A4 - - - -

Text-mined citations for rs200102493...

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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 Aug 27, 2021