NM_000441.2(SLC26A4):c.2167C>G (p.His723Asp) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jun 4, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001221275.2

Allele description [Variation Report for NM_000441.2(SLC26A4):c.2167C>G (p.His723Asp)]

NM_000441.2(SLC26A4):c.2167C>G (p.His723Asp)

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.2167C>G (p.His723Asp)
HGVS:
  • NC_000007.14:g.107710131C>G
  • NG_008489.1:g.54497C>G
  • NM_000441.2:c.2167C>GMANE SELECT
  • NP_000432.1:p.His723Asp
  • NC_000007.13:g.107350576C>G
  • NM_000441.1:c.2167C>G
Protein change:
H723D
Molecular consequence:
  • NM_000441.2:c.2167C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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
SCV001393307Invitaecriteria provided, single submitter
Pathogenic
(Jun 4, 2019)
germlineclinical testing

PubMed (10)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis.

Dai P, Yuan Y, Huang D, Zhu X, Yu F, Kang D, Yuan H, Wu B, Han D, Wong LJ.

J Transl Med. 2008 Nov 30;6:74. doi: 10.1186/1479-5876-6-74.

PubMed [citation]
PMID:
19040761
PMCID:
PMC2630943

Genetic diagnosis and cochlear implantation for patients with nonsyndromic hearing loss and enlarged vestibular aqueduct.

Lai R, Hu P, Zhu F, Zhu G, Vivero R, Peng A, Wu W, Xiao Z, Liu X, Xie D.

J Laryngol Otol. 2012 Apr;126(4):349-55. doi: 10.1017/S002221511100346X. Epub 2012 Jan 31.

PubMed [citation]
PMID:
22289209
See all PubMed Citations (10)

Details of each submission

From Invitae, SCV001393307.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (10)

Description

This sequence change replaces histidine with aspartic acid at codon 723 of the SLC26A4 protein (p.His723Asp). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with enlarged vestibular aqueduct (PMID: 19040761, 22289209, 25372295, 26035154). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). This variant disrupts the p.His723 amino acid residue in SLC26A4. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11405873, 20583162, 22884721, 23755160, 24338212). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Oct 8, 2021

Support Center