NM_001032386.2(SUOX):c.1379dup (p.Asp461fs) AND Sulfite oxidase deficiency

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 6, 2023
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:: RCV003639909.1

Allele description

NM_001032386.2(SUOX):c.1379dup (p.Asp461fs)

Gene:

SUOX:sulfite oxidase [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

12q13.2

Genomic location:

Preferred name:

NM_001032386.2(SUOX):c.1379dup (p.Asp461fs)

HGVS:

NC_000012.12:g.56004768dup
NG_008136.1:g.12510dup
NM_000456.3:c.1379dup
NM_001032386.2:c.1379dupMANE SELECT
NM_001032387.2:c.1379dup
NP_000447.2:p.Asp461fs
NP_001027558.1:p.Asp461fs
NP_001027559.1:p.Asp461fs
NC_000012.11:g.56398551_56398552insT
NC_000012.11:g.56398552dup

Protein change:

D461fs

Molecular consequence:

NM_000456.3:c.1379dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001032386.2:c.1379dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001032387.2:c.1379dup - frameshift variant - [Sequence Ontology: SO:0001589]

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

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hypothetical protein [Mycoplasma haemocanis]
hypothetical protein [Mycoplasma haemocanis]
gi|504038397|ref|WP_014272391.1|

Protein
PREDICTED: Medicago truncatula F-box protein At4g35930 (LOC11440152), transcript...
PREDICTED: Medicago truncatula F-box protein At4g35930 (LOC11440152), transcript variant X1, mRNA
gi|1995157857|ref|XM_024771796.2|

Nucleotide
AAF75765 AND 1[s_discriminator] (0)
dbGaP
up22d01.x1 NCI_CGAP_Mam2 Mus musculus cDNA clone IMAGE:2655073 3', mRNA sequence
up22d01.x1 NCI_CGAP_Mam2 Mus musculus cDNA clone IMAGE:2655073 3', mRNA sequence
gi|6558113|gnl|dbEST|3586450|gb|AW2 .1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004422591	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jan 6, 2023)	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

SCV004422591

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jan 6, 2023)

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, SCV004422591.1

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

Description

For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SUOX protein in which other variant(s) (p.Arg529*) have been determined to be pathogenic (PMID: 17940249, 28980090). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with SUOX-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp461Glyfs*14) in the SUOX gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 85 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 28, 2024

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