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NM_000531.6(OTC):c.943G>T (p.Val315Phe) AND Ornithine carbamoyltransferase deficiency

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 20, 2016
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:
RCV000590461.1

Allele description [Variation Report for NM_000531.6(OTC):c.943G>T (p.Val315Phe)]

NM_000531.6(OTC):c.943G>T (p.Val315Phe)

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.943G>T (p.Val315Phe)
HGVS:
  • NC_000023.11:g.38411937G>T
  • NG_008471.1:g.64455G>T
  • NM_000531.6:c.943G>TMANE SELECT
  • NP_000522.3:p.Val315Phe
  • LRG_846t1:c.943G>T
  • LRG_846:g.64455G>T
  • LRG_846p1:p.Val315Phe
  • NC_000023.10:g.38271190G>T
  • NM_000531.5:c.943G>T
Protein change:
V315F
Links:
dbSNP: rs72558470
NCBI 1000 Genomes Browser:
rs72558470
Molecular consequence:
  • NM_000531.6:c.943G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Ornithine carbamoyltransferase deficiency (OTCD)
Synonyms:
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; Ornithine transcarbamylase deficiency; OTC deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010703; MedGen: C0268542; Orphanet: 664; OMIM: 311250

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000697263Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely pathogenic
(Sep 20, 2016) 		germlineclinical testing

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

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.

Yamaguchi S, Brailey LL, Morizono H, Bale AE, Tuchman M.

Hum Mutat. 2006 Jul;27(7):626-32.

PubMed [citation]
PMID:
16786505

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000697263.1

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

Description

Variant summary: The OTC c.943G>T (p.Val315Phe) variant involves the alteration of a conserved nucleotide. Val315 is located in the Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain (InterPro). 5/5 in silico tools predict a damaging outcome for this variant. This variant is absent in 87705 control chromosomes. p.Val315Gly and p.Val315Asp have been classified as pathogenic in ClinVar and HGMD, suggesting Val315 is critical for the function of OTC protein. In addition, one clinical diagnostic laboratory/reputable database has classified this variant as pathogenic. Taken together, this variant is classified as likely pathogenic until additional data becomes available (occurrences in OTCD patients and functional studies).

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

Last Updated: Mar 26, 2023