NM_000441.2(SLC26A4):c.1707+6T>C AND Rare genetic deafness

Clinical significance:Likely pathogenic (Last evaluated: Nov 5, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000156735.1

Allele description [Variation Report for NM_000441.2(SLC26A4):c.1707+6T>C]

NM_000441.2(SLC26A4):c.1707+6T>C

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.1707+6T>C
HGVS:
  • NC_000007.14:g.107700181T>C
  • NG_008489.1:g.44547T>C
  • NM_000441.2:c.1707+6T>CMANE SELECT
  • NC_000007.13:g.107340626T>C
  • NM_000441.1:c.1707+6T>C
Links:
dbSNP: rs727505230
NCBI 1000 Genomes Browser:
rs727505230
Molecular consequence:
  • NM_000441.2:c.1707+6T>C - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
Rare genetic deafness
Identifiers:
MedGen: CN826980; Orphanet: 96210

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000206456Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely pathogenic
(Nov 5, 2014)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000206456.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The c.1707+6T>C variant in SLC26A4 was absent from large population studies, but has been identified by our laboratory in one individual with hearing loss and e nlarged vestibular aqueducts (EVA) who also carried a pathogenic variant on the other copy of SLC26A4. This variant is located in the 5' splice region. Computat ional tools do not suggest an impact to splicing, though this information is not predictive enough to rule out pathogenicity. However, the presence of this vari ant in combination with a reported pathogenic variant and in an individual with hearing loss and EVA, increases the likelihood that the c.1707+6T>C variant is p athogenic. In summary, although additional studies are required to fully establi sh its clinical significance, the c.1707+6T>C variant is likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Jul 7, 2021

Support Center