NM_001032386.2(SUOX):c.1084G>A (p.Gly362Ser) AND Sulfite oxidase deficiency

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Sep 12, 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:: RCV001280525.5

Allele description [Variation Report for NM_001032386.2(SUOX):c.1084G>A (p.Gly362Ser)]

NM_001032386.2(SUOX):c.1084G>A (p.Gly362Ser)

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.1084G>A (p.Gly362Ser)

HGVS:

NC_000012.12:g.56004473G>A
NG_008136.1:g.12215G>A
NM_000456.3:c.1084G>A
NM_001032386.2:c.1084G>AMANE SELECT
NM_001032387.2:c.1084G>A
NP_000447.2:p.Gly362Ser
NP_001027558.1:p.Gly362Ser
NP_001027559.1:p.Gly362Ser
NC_000012.11:g.56398257G>A
NM_000456.2:c.1084G>A

Protein change:

G362S; GLY362SER

Links:

OMIM: 606887.0006; dbSNP: rs757559168

NCBI 1000 Genomes Browser:

rs757559168

Molecular consequence:

NM_000456.3:c.1084G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001032386.2:c.1084G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001032387.2:c.1084G>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

Recent activity

Clear Turn Off Turn On

mitochondrial basic amino acids transporter [Macrosteles quadrilineatus]
mitochondrial basic amino acids transporter [Macrosteles quadrilineatus]
gi|2463237158|ref|XP_054264358.1|

Protein
LOC104421914 [Eucalyptus grandis]
LOC104421914 [Eucalyptus grandis]
Gene ID:104421914

Gene

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
SCV001467709	OMIM	no assertion criteria provided	Pathogenic (Dec 29, 2020)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV002233728	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 12, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 12112661, 31127934, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001467709

OMIM

no assertion criteria provided

Pathogenic
(Dec 29, 2020)

germline

literature only

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

SCV002233728

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 12, 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	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	unknown	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

Impaired mitochondrial maturation of sulfite oxidase in a patient with severe sulfite oxidase deficiency.

Bender D, Kaczmarek AT, Santamaria-Araujo JA, Stueve B, Waltz S, Bartsch D, Kurian L, Cirak S, Schwarz G.

Hum Mol Genet. 2019 Sep 1;28(17):2885-2899. doi: 10.1093/hmg/ddz109.

PubMed [citation]

PMID:: 31127934

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV001467709.1

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

Description

In a Turkish boy, born to consanguineous parents, with isolated sulfite oxidase deficiency (ISOD; 272300), Bender et al. (2019) identified homozygosity for a c.1084G-A transition (c.1084G-A, NM_000456.2) in the SUOX gene, resulting in a gly362-to-ser (G362S) substitution at a highly conserved residue. The mutation was identified by direct gene sequencing. Sulfite oxidase activity in patient fibroblasts was absent. Apo-SUOX protein with the G362S mutation expressed in HEK293 cells had reduced stability and reduced molybdenum cofactor incorporation efficiency, which provided evidence for a protein maturation defect.

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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002233728.2

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

Description

This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 362 of the SUOX protein (p.Gly362Ser). This variant is present in population databases (rs757559168, gnomAD 0.005%). This missense change has been observed in individual(s) with sulfite oxidase deficiency (PMID: 12112661, 31127934). This variant is also known as c.913G>A p.G305S. ClinVar contains an entry for this variant (Variation ID: 992188). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SUOX protein function. Experimental studies have shown that this missense change affects SUOX function (PMID: 31127934). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine