NM_000441.1(SLC26A4):c.349C>T AND Deafness, autosomal recessive 4, with enlarged vestibular aqueduct

Clinical significance:Uncertain significance (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000225082.3

Allele description [Variation Report for NM_000441.1(SLC26A4):c.349C>T]

NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe)

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.349C>T (p.Leu117Phe)
Other names:
NM_000441.1(SLC26A4):c.349C>T(p.Leu117Phe); NM_000441.1(SLC26A4):c.349C>T
HGVS:
  • NC_000007.14:g.107672182C>T
  • NG_008489.1:g.16548C>T
  • NM_000441.2:c.349C>TMANE SELECT
  • NP_000432.1:p.Leu117Phe
  • NC_000007.13:g.107312627C>T
  • NM_000441.1:c.349C>T
  • O43511:p.Leu117Phe
  • c.349C>T
Protein change:
L117F
Links:
UniProtKB: O43511#VAR_021647; dbSNP: rs145254330
NCBI 1000 Genomes Browser:
rs145254330
Molecular consequence:
  • NM_000441.2:c.349C>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219]

Condition(s)

Name:
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct (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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000282017Laboratory of Prof. Karen Avraham,Tel Aviv Universityno assertion criteria providedPathogenic
(Feb 19, 2016)
germlineresearch

SCV000994863National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center

See additional submitters

no assertion criteria providedother
(Aug 20, 2019)
germlineliterature only, in vitro

PubMed (7)
[See all records that cite these PMIDs]

SCV001321397Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Apr 27, 2017)
germlineclinical testing

Citation Link

Description

NSHL; recessive or Pendred, DFNB4

SCV000282017

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch, in vitro
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing, literature only

Citations

PubMed

Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene.

Reardon W, OMahoney CF, Trembath R, Jan H, Phelps PD.

QJM. 2000 Feb;93(2):99-104.

PubMed [citation]
PMID:
10700480

Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome.

Taylor JP, Metcalfe RA, Watson PF, Weetman AP, Trembath RC.

J Clin Endocrinol Metab. 2002 Apr;87(4):1778-84.

PubMed [citation]
PMID:
11932316
See all PubMed Citations (7)

Details of each submission

From Laboratory of Prof. Karen Avraham,Tel Aviv University, SCV000282017.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

Congenital, profound HL

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center, SCV000994863.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (7)
2not providednot providednot providednot providedin vitro PubMed (7)

Description

Benign effect in vitro experiment

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided
2germlineyesnot providednot providedassert pathogenicitynot providednot providednot providednot provided

From Illumina Clinical Services Laboratory,Illumina, SCV001321397.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 27, 2021

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