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NM_000441.2(SLC26A4):c.1231G>C (p.Ala411Pro)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 21, 2019)
Last evaluated:
May 2, 2016
Accession:
VCV000504511.2
Variation ID:
504511
Description:
single nucleotide variant
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NM_000441.2(SLC26A4):c.1231G>C (p.Ala411Pro)

Allele ID
496922
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q22.3
Genomic location
7: 107690205 (GRCh38) GRCh38 UCSC
7: 107330650 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.107330650G>C
NC_000007.14:g.107690205G>C
NM_000441.2:c.1231G>C MANE Select NP_000432.1:p.Ala411Pro missense
NG_008489.1:g.34571G>C
Protein change
A411P
Other names
-
Canonical SPDI
NC_000007.14:107690204:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
ClinGen: CA368839274
dbSNP: rs1293971731
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 criteria provided, single submitter May 2, 2016 RCV000603987.1
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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
748 824

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 02, 2016)
criteria provided, single submitter
Method: clinical testing
Rare genetic deafness
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000710861.2
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (2)
Comment:
The p.Ala411Pro variant in SLC26A4 has been reported in the compound heterozygou s state in two Latino siblings with Pendred syndrome (Trevino 2001). It has … (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
Clinical findings and PDS mutations in 15 patients with hearing loss and dilatation of the vestibular aqueduct. Courtmans I The Journal of laryngology and otology 2007 PMID: 17125574
Clinical and molecular analysis of three Mexican families with Pendred's syndrome. Gonzalez Trevino O European journal of endocrinology 2001 PMID: 11375792

Text-mined citations for rs1293971731...

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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 Jul 07, 2021