NM_001032386.2(SUOX):c.1585C>T (p.Arg529Ter) AND Sulfite oxidase deficiency

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 13, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV002821022.2

Allele description

NM_001032386.2(SUOX):c.1585C>T (p.Arg529Ter)

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.1585C>T (p.Arg529Ter)

HGVS:

NC_000012.12:g.56004974C>T
NG_008136.1:g.12716C>T
NM_000456.3:c.1585C>T
NM_001032386.2:c.1585C>TMANE SELECT
NM_001032387.2:c.1585C>T
NP_000447.2:p.Arg529Ter
NP_001027558.1:p.Arg529Ter
NP_001027559.1:p.Arg529Ter
NC_000012.11:g.56398758C>T

Protein change:

R529*

Molecular consequence:

NM_000456.3:c.1585C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001032386.2:c.1585C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001032387.2:c.1585C>T - nonsense - [Sequence Ontology: SO:0001587]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003204666	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely pathogenic (Jun 13, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 17940249, 28980090, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003204666

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely pathogenic
(Jun 13, 2022)

germline

clinical testing

PubMed (3)
[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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Magnetic resonance imaging and magnetic resonance spectroscopy in isolated sulfite oxidase deficiency.

Hoffmann C, Ben-Zeev B, Anikster Y, Nissenkorn A, Brand N, Kuint J, Kushnir T.

J Child Neurol. 2007 Oct;22(10):1214-21.

PubMed [citation]

PMID:: 17940249

Isolated sulfite oxidase deficiency.

Claerhout H, Witters P, Régal L, Jansen K, Van Hoestenberghe MR, Breckpot J, Vermeersch P.

J Inherit Metab Dis. 2018 Jan;41(1):101-108. doi: 10.1007/s10545-017-0089-4. Epub 2017 Oct 4. Review.

PubMed [citation]

PMID:: 28980090

See all PubMed Citations (3)

Details of each submission

From Invitae, SCV003204666.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant is also known as p.R472X. This premature translational stop signal has been observed in individual(s) with sulfite oxidase deficiency (PMID: 17940249, 28980090). This variant is present in population databases (rs766949012, gnomAD 0.005%). This sequence change creates a premature translational stop signal (p.Arg529*) in the SUOX gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 17 amino acid(s) of the SUOX protein.

#	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

Last Updated: Feb 20, 2024

ClinVar

Relating variation to medicine