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NM_000531.6(OTC):c.793T>C (p.Trp265Arg) AND OTC-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 25, 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:
RCV003415853.4

Allele description [Variation Report for NM_000531.6(OTC):c.793T>C (p.Trp265Arg)]

NM_000531.6(OTC):c.793T>C (p.Trp265Arg)

Gene:
OTC:ornithine transcarbamylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.4
Genomic location:
Preferred name:
NM_000531.6(OTC):c.793T>C (p.Trp265Arg)
HGVS:
  • NC_000023.11:g.38408951T>C
  • NG_008471.1:g.61469T>C
  • NM_000531.6:c.793T>CMANE SELECT
  • NP_000522.3:p.Trp265Arg
  • LRG_846t1:c.793T>C
  • LRG_846:g.61469T>C
  • LRG_846p1:p.Trp265Arg
  • NC_000023.10:g.38268204T>C
  • NM_000531.5:c.793T>C
Protein change:
W265R
Links:
dbSNP: rs72558445
NCBI 1000 Genomes Browser:
rs72558445
Molecular consequence:
  • NM_000531.6:c.793T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
OTC-related disorder
Synonyms:
OTC-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004114136PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 25, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004114136.1

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

Description

The OTC c.793T>C variant is predicted to result in the amino acid substitution p.Trp265Arg. This variant has been reported in a patient with late-onset ornithine transcarbamylase (OTC) deficiency (Supplementary Table S1, Yamaguchi et al. 2006. PubMed ID: 16786505). Of note, another variant (c.794G>T) impacting the same codon but leading to a different amino acid change (p.Trp265Leu) has been reported in two unrelated males with mild OTC deficiency, and analysis of liver biopsies from these patients showed a decrease in OTC activity (Giorgi et al. 2000. PubMed ID: 10737985). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: May 19, 2024