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NM_000441.2(SLC26A4):c.1668T>A (p.Tyr556Ter)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Aug 5, 2021)
Last evaluated:
Feb 15, 2020
Accession:
VCV000987925.3
Variation ID:
987925
Description:
single nucleotide variant
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NM_000441.2(SLC26A4):c.1668T>A (p.Tyr556Ter)

Allele ID
975897
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q22.3
Genomic location
7: 107700136 (GRCh38) GRCh38 UCSC
7: 107340581 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.107340581T>A
NC_000007.14:g.107700136T>A
NG_008489.1:g.44502T>A
NM_000441.2:c.1668T>A MANE Select NP_000432.1:p.Tyr556Ter nonsense
Protein change
Y556*
Other names
-
Canonical SPDI
NC_000007.14:107700135:T:A
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
Likely pathogenic 1 no assertion criteria provided Feb 15, 2020 RCV001269338.2
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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
(Feb 15, 2020)
no assertion criteria provided
Method: research
SLC26A4-Related Disorders
(Autosomal recessive inheritance)
Allele origin: germline
Indian Institute of Integrative Medicine,Council of Scientific and Industrial Research
Accession: SCV001448681.2
Submitted: (Aug 05, 2021)
Comment:
The whole-exome sequencing data identified the SLC26A4:c.1668T>A variant in one individual affected with OTOF-related deafness (rs80356590), and one in OTOF heterozygous (carrier) normal phenotype. In-silico … (more)
Evidence details
Publications
pmc: 8185570
Comment:
Carriers (Heterozygous) were found in this study.

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
Whole-Exome Sequencing Reveals a Rare Variant of <i>OTOF</i> Gene Causing Congenital Non-syndromic Hearing Loss Among Large Muslim Families Favoring Consanguinity. Fareed M Frontiers in genetics 2021 PMC8185570

Record last updated Sep 29, 2021