NM_001032386.2(SUOX):c.352C>T (p.His118Tyr) AND Sulfite oxidase deficiency

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 20, 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:: RCV002571586.2

Allele description [Variation Report for NM_001032386.2(SUOX):c.352C>T (p.His118Tyr)]

NM_001032386.2(SUOX):c.352C>T (p.His118Tyr)

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.352C>T (p.His118Tyr)

HGVS:

NC_000012.12:g.56003741C>T
NG_008136.1:g.11483C>T
NM_000456.3:c.352C>T
NM_001032386.2:c.352C>TMANE SELECT
NM_001032387.2:c.352C>T
NP_000447.2:p.His118Tyr
NP_001027558.1:p.His118Tyr
NP_001027559.1:p.His118Tyr
NC_000012.11:g.56397525C>T
NM_000456.2:c.352C>T

Protein change:

H118Y

Molecular consequence:

NM_000456.3:c.352C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001032386.2:c.352C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001032387.2:c.352C>T - 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

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transmembrane protein, putative (DUF594) [Arabidopsis thaliana]
transmembrane protein, putative (DUF594) [Arabidopsis thaliana]
gi|15242428|ref|NP_199366.1|

Protein
Cuphea strigulosa isolate 2009-B45 tRNA-Leu (trnL) gene, partial sequence; trnL-...
Cuphea strigulosa isolate 2009-B45 tRNA-Leu (trnL) gene, partial sequence; trnL-trnF intergenic spacer, complete sequence; and tRNA-Phe (trnF) gene, partial sequence; chloroplast
gi|299831293|gb|HM099584.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003441138	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 20, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 28725568, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003441138

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 20, 2022)

germline

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A compound heterozygote case of isolated sulfite oxidase deficiency.

Brumaru D, Guerin E, Voegeli AC, Eyer D, Maitre M.

Mol Genet Metab Rep. 2017 Sep;12:99-102. doi: 10.1016/j.ymgmr.2017.06.009.

PubMed [citation]

PMID:: 28725568
PMCID:: PMC5501915

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003441138.1

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

Description

This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 118 of the SUOX protein (p.His118Tyr). This variant is present in population databases (rs770389350, gnomAD 0.002%). This missense change has been observed in individual(s) with sulfite oxidase deficiency (PMID: 28725568). This variant is also known as c.181C>T (p.H61Y). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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: Oct 26, 2024

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