NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val) AND Pendred syndrome

Germline classification:: Likely pathogenic (3 submissions)
Last evaluated:: Sep 5, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000169123.5

Allele description [Variation Report for NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val)]

NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val)

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.1079C>T (p.Ala360Val)

HGVS:

NC_000007.14:g.107689130C>T
NG_008489.1:g.33496C>T
NM_000441.2:c.1079C>TMANE SELECT
NP_000432.1:p.Ala360Val
NC_000007.13:g.107329575C>T
NM_000441.1:c.1079C>T

Protein change:

A360V

Links:

dbSNP: rs786204474

NCBI 1000 Genomes Browser:

rs786204474

Molecular consequence:

NM_000441.2:c.1079C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000220333	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (May 21, 2014)	unknown	literature only	PubMed (10) [See all records that cite these PMIDs] 23838540, 23266159, 24612839, 24341454, 23918157, 23151025, 21961810, 17697873, 23185506, 21154317 Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015), Citation Link,
SCV001455808	Natera, Inc.	no assertion criteria provided	Pathogenic (Sep 16, 2020)	germline	clinical testing
SCV002026810	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Sep 5, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000220333

Counsyl

criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))

Likely pathogenic
(May 21, 2014)

unknown

literature only

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

Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015),

Citation Link,

SCV001455808

Natera, Inc.

no assertion criteria provided

Pathogenic
(Sep 16, 2020)

germline

clinical testing

SCV002026810

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Sep 5, 2021)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

A Novel mutation in the SLC26A4 gene in a Chinese family with Pendred syndrome.

Huang CJ, Lei TH, Chang WL, Tu TY, Shiao AS, Chiu CY, Jap TS.

Int J Pediatr Otorhinolaryngol. 2013 Sep;77(9):1495-9. doi: 10.1016/j.ijporl.2013.06.017. Epub 2013 Jul 6.

PubMed [citation]

PMID:: 23838540

Sensorineural hearing loss caused by mutations in two alleles of both GJB2 and SLC26A4 genes.

Huang S, Han D, Wang G, Yuan Y, Song Y, Han M, Chen Z, Dai P.

Int J Pediatr Otorhinolaryngol. 2013 Mar;77(3):379-83. doi: 10.1016/j.ijporl.2012.11.031. Epub 2012 Dec 21.

PubMed [citation]

PMID:: 23266159

See all PubMed Citations (11)

Details of each submission

From Counsyl, SCV000220333.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (10)

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

From Natera, Inc., SCV001455808.1

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

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

From Genome-Nilou Lab, SCV002026810.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 6, 2024

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