NM_001032386.2(SUOX):c.1280_1281delinsAC (p.Ser427Tyr) AND Sulfite oxidase deficiency

Germline classification:: Uncertain significance (3 submissions)
Last evaluated:: Oct 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:: RCV000761554.16

Allele description [Variation Report for NM_001032386.2(SUOX):c.1280_1281delinsAC (p.Ser427Tyr)]

NM_001032386.2(SUOX):c.1280_1281delinsAC (p.Ser427Tyr)

Gene:

SUOX:sulfite oxidase [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

12q13.2

Genomic location:

Preferred name:

NM_001032386.2(SUOX):c.1280_1281delinsAC (p.Ser427Tyr)

Other names:

1109C>A; S370Y

HGVS:

NC_000012.12:g.56004669_56004670delinsAC
NG_008136.1:g.12411_12412delinsAC
NM_000456.2:c.1280_1281delinsAC
NM_000456.3:c.1280_1281delinsAC
NM_001032386.2:c.1280_1281delinsACMANE SELECT
NM_001032387.2:c.1280_1281delinsAC
NP_000447.2:p.Ser427Tyr
NP_001027558.1:p.Ser427Tyr
NP_001027559.1:p.Ser427Tyr
NC_000012.11:g.56398453_56398454delinsAC
NM_000456.2:c.1280_1281delCGinsAC

Protein change:

S427Y

Links:

dbSNP: rs1565799723

NCBI 1000 Genomes Browser:

rs1565799723

Molecular consequence:

NM_000456.3:c.1280_1281delinsAC - missense variant - [Sequence Ontology: SO:0001583]
NM_001032386.2:c.1280_1281delinsAC - missense variant - [Sequence Ontology: SO:0001583]
NM_001032387.2:c.1280_1281delinsAC - 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
SCV000891703	GeneReviews	no assertion criteria provided	Pathogenic (Jun 26, 2017)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 10519592, 28933809
SCV002165613	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Oct 13, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004228845	GenomeConnect - Invitae Patient Insights Network	no classification provided	not provided	unknown	phenotyping only

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000891703

GeneReviews

no assertion criteria provided

Pathogenic
(Jun 26, 2017)

germline

literature only

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

SCV002165613

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Oct 13, 2022)

germline

clinical testing

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

SCV004228845

GenomeConnect - Invitae Patient Insights Network

no classification provided

not provided

unknown

phenotyping only

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	literature only, clinical testing
not provided	unknown	unknown	1	not provided	not provided	1	not provided	phenotyping only

Citations

PubMed

Isolated sulfite oxidase deficiency: review of two cases in one family.

Edwards MC, Johnson JL, Marriage B, Graf TN, Coyne KE, Rajagopalan KV, MacDonald IM.

Ophthalmology. 1999 Oct;106(10):1957-61.

PubMed [citation]

PMID:: 10519592

Isolated Sulfite Oxidase Deficiency.

Bindu PS, Nagappa M, Bharath RD, Taly AB.

2017 Sep 21. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 28933809

See all PubMed Citations (3)

Details of each submission

From GeneReviews, SCV000891703.1

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

#	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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002165613.2

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

Description

This sequence change replaces serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 427 of the SUOX protein (p.Ser427Tyr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with SUOX-related conditions. ClinVar contains an entry for this variant (Variation ID: 623470). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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

From GenomeConnect - Invitae Patient Insights Network, SCV004228845.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	phenotyping only	not provided

Description

Variant interpreted as Uncertain significance and reported on 11-30-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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

Last Updated: Oct 13, 2024

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