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NM_001032386.2(SUOX):c.1276C>T (p.Gln426Ter) AND Sulfite oxidase deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 25, 2024
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:
RCV003638952.2

Allele description [Variation Report for NM_001032386.2(SUOX):c.1276C>T (p.Gln426Ter)]

NM_001032386.2(SUOX):c.1276C>T (p.Gln426Ter)

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.1276C>T (p.Gln426Ter)
HGVS:
  • NC_000012.12:g.56004665C>T
  • NG_008136.1:g.12407C>T
  • NM_000456.3:c.1276C>T
  • NM_001032386.2:c.1276C>TMANE SELECT
  • NM_001032387.2:c.1276C>T
  • NP_000447.2:p.Gln426Ter
  • NP_001027558.1:p.Gln426Ter
  • NP_001027559.1:p.Gln426Ter
  • NC_000012.11:g.56398449C>T
  • NM_000456.2:c.1276C>T
Protein change:
Q426*
Molecular consequence:
  • NM_000456.3:c.1276C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001032386.2:c.1276C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001032387.2:c.1276C>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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004462391Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Jan 25, 2024)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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, RĂ©gal 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 Labcorp Genetics (formerly Invitae), Labcorp, SCV004462391.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Gln426*) in the SUOX gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 120 amino acid(s) of the SUOX protein. This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 2635515). 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. For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024