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NM_000441.2(SLC26A4):c.71G>T (p.Arg24Leu)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Nov 16, 2020)
Accession:
VCV000996636.1
Variation ID:
996636
Description:
single nucleotide variant
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NM_000441.2(SLC26A4):c.71G>T (p.Arg24Leu)

Allele ID
984328
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q22.3
Genomic location
7: 107661712 (GRCh38) GRCh38 UCSC
7: 107302157 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.107302157G>T
NC_000007.14:g.107661712G>T
NG_008489.1:g.6078G>T
... more HGVS
Protein change
R24L
Other names
-
Canonical SPDI
NC_000007.14:107661711:G:T
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 - RCV001291241.1
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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
Likely pathogenic
(-)
no assertion criteria provided
Method: research
non-syndromic autosomal recessive hearing loss
Allele origin: inherited
University of Washington Center for Mendelian Genomics, University of Washington
Accession: SCV001479666.1
Submitted: (Nov 16, 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
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss. Richard EM Human mutation 2019 PMID: 30303587

Record last updated Sep 06, 2021