NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val) AND Pendred syndrome

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:
2 submissions [Details]
Record status:
current
Accession:
RCV001164905.2

Allele description [Variation Report for NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val)]

NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val)

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.2219G>T (p.Gly740Val)
HGVS:
  • NC_000007.14:g.107710183G>T
  • NG_008489.1:g.54549G>T
  • NM_000441.2:c.2219G>TMANE SELECT
  • NP_000432.1:p.Gly740Val
  • NC_000007.13:g.107350628G>T
  • NM_000441.1:c.2219G>T
  • c.2219G>T
Protein change:
G740V
Links:
dbSNP: rs111033310
NCBI 1000 Genomes Browser:
rs111033310
Molecular consequence:
  • NM_000441.2:c.2219G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pendred syndrome (PDS)
Synonyms:
HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B; THYROID DYSHORMONOGENESIS 2B; THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2B; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010134; MedGen: C0271829; Orphanet: 705; OMIM: 274600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001327066Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Apr 27, 2017)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV001459943Natera, Inc.no assertion criteria providedUncertain significance
(Sep 16, 2020)
germlineclinical testing

Summary from all submissions

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

Citations

PubMed

Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts.

Landa P, Differ AM, Rajput K, Jenkins L, Bitner-Glindzicz M.

BMC Med Genet. 2013 Aug 21;14:85. doi: 10.1186/1471-2350-14-85.

PubMed [citation]
PMID:
23965030
PMCID:
PMC3765178

Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA).

Pourová R, Janousek P, Jurovcík M, Dvoráková M, Malíková M, Rasková D, Bendová O, Leonardi E, Murgia A, Kabelka Z, Astl J, Seeman P.

Ann Hum Genet. 2010 Jul;74(4):299-307. doi: 10.1111/j.1469-1809.2010.00581.x.

PubMed [citation]
PMID:
20597900

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001327066.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant 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

From Natera, Inc., SCV001459943.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 6, 2021

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