NM_000441.2(SLC26A4):c.1115C>T (p.Ala372Val) AND Autosomal recessive nonsyndromic hearing loss 4

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Jul 1, 2017
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000005092.5

Allele description [Variation Report for NM_000441.2(SLC26A4):c.1115C>T (p.Ala372Val)]

NM_000441.2(SLC26A4):c.1115C>T (p.Ala372Val)

Gene:

SLC26A4:solute carrier family 26 member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q22.3

Genomic location:

Preferred name:

NM_000441.2(SLC26A4):c.1115C>T (p.Ala372Val)

HGVS:

NC_000007.14:g.107689166C>T
NG_008489.1:g.33532C>T
NM_000441.2:c.1115C>TMANE SELECT
NP_000432.1:p.Ala372Val
NC_000007.13:g.107329611C>T
NM_000441.1:c.1115C>T
O43511:p.Ala372Val

Protein change:

A372V; ALA372VAL

Links:

UniProtKB: O43511#VAR_007443; OMIM: 605646.0014; dbSNP: rs121908364

NCBI 1000 Genomes Browser:

rs121908364

Molecular consequence:

NM_000441.2:c.1115C>T - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

loss_of_function_variant [Sequence Ontology: SO:0002054]

Observations:

Condition(s)

Name:: Autosomal recessive nonsyndromic hearing loss 4 (DFNB4)
Synonyms:: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4; DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, DIGENIC; Nonsyndromic enlarged vestibular aqueduct (NSEVA); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010933; MedGen: C3538946; Orphanet: 90636; OMIM: 600791

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000025268	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 1999)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000611811	Division of Hearing and Balance Research, National Hospital Organization Tokyo Medical Center	criteria provided, single submitter (Submitter's publication)	Pathogenic (Jul 1, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000994881	National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center See additional submitters The Hugh Knowles Center for Clinical and Basic Science in Hearing and Its Disorders, Northwestern University	no assertion criteria provided	Affects (Aug 20, 2019)	germline	clinical testing, in vitro	PubMed (6) [See all records that cite these PMIDs] 10190331, 20826203, 24599119, 26346818, 27771369, 31599023

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000025268

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 1999)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

SCV000611811

Division of Hearing and Balance Research, National Hospital Organization Tokyo Medical Center

criteria provided, single submitter

(Submitter's publication)

Pathogenic
(Jul 1, 2017)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV000994881

National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center

See additional submitters

no assertion criteria provided

Affects
(Aug 20, 2019)

germline

clinical testing, in vitro

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing, in vitro
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Subgroups of enlarged vestibular aqueduct in relation to SLC26A4 mutations and hearing loss.

Okamoto Y, Mutai H, Nakano A, Arimoto Y, Sugiuchi T, Masuda S, Morimoto N, Sakamoto H, Ogahara N, Takagi A, Taiji H, Kaga K, Ogawa K, Matsunaga T.

Laryngoscope. 2014 Apr;124(4):E134-40. doi: 10.1002/lary.24368. Epub 2013 Dec 17.

PubMed [citation]

PMID:: 24105851

Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.

Usami S, Abe S, Weston MD, Shinkawa H, Van Camp G, Kimberling WJ.

Hum Genet. 1999 Feb;104(2):188-92.

PubMed [citation]

PMID:: 10190331

See all PubMed Citations (7)

Details of each submission

From OMIM, SCV000025268.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In families with autosomal recessive deafness-4 with enlarged vestibular aqueduct (DFNB4; 600791), Usami et al. (1999) identified a C-to-T transition at nucleotide 1115 of the SLC26A4 gene, leading to an ala-to-val substitution at residue 372 (A372V). This mutation was found in compound heterozygosity with the 2111insGCTGG mutation (605646.0015) in 1 family.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Division of Hearing and Balance Research, National Hospital Organization Tokyo Medical Center, SCV000611811.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, SCV000994881.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)
2	not provided	not provided	not provided	not provided	in vitro	PubMed (6)

Description

in vitro experiment

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided
2	germline	yes	not provided	not provided	assert pathogenicity		not provided	not provided	not provided	not provided

Last Updated: Apr 6, 2024

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