NM_001032386.2(SUOX):c.332T>A (p.Val111Asp) AND Sulfite oxidase deficiency

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 26, 2013
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000184031.2

Allele description [Variation Report for NM_001032386.2(SUOX):c.332T>A (p.Val111Asp)]

NM_001032386.2(SUOX):c.332T>A (p.Val111Asp)

Gene:

SUOX:sulfite oxidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.2

Genomic location:

Preferred name:

NM_001032386.2(SUOX):c.332T>A (p.Val111Asp)

HGVS:

NC_000012.12:g.56003721T>A
NG_008136.1:g.11463T>A
NM_000456.3:c.332T>A
NM_001032386.2:c.332T>AMANE SELECT
NM_001032387.2:c.332T>A
NP_000447.2:p.Val111Asp
NP_001027558.1:p.Val111Asp
NP_001027559.1:p.Val111Asp
NC_000012.11:g.56397505T>A

Protein change:

V111D

Links:

dbSNP: rs794729211

NCBI 1000 Genomes Browser:

rs794729211

Molecular consequence:

NM_000456.3:c.332T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001032386.2:c.332T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001032387.2:c.332T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Sulfite oxidase deficiency
Synonyms:: Isolated sulfite oxidase deficiency
Identifiers:: MONDO: MONDO:0010089; MedGen: C0268624; Orphanet: 833; OMIM: 272300; Human Phenotype Ontology: HP:0003643

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000236562	Mendelics	no assertion criteria provided	Likely pathogenic (Sep 26, 2013)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 12112661, 9428520

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000236562

Mendelics

no assertion criteria provided

Likely pathogenic
(Sep 26, 2013)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients.

Johnson JL, Coyne KE, Garrett RM, Zabot MT, Dorche C, Kisker C, Rajagopalan KV.

Hum Mutat. 2002 Jul;20(1):74.

PubMed [citation]

PMID:: 12112661

Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase.

Kisker C, Schindelin H, Pacheco A, Wehbi WA, Garrett RM, Rajagopalan KV, Enemark JH, Rees DC.

Cell. 1997 Dec 26;91(7):973-83.

PubMed [citation]

PMID:: 9428520

Details of each submission

From Mendelics, SCV000236562.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

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

Last Updated: Jul 29, 2023

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