NM_000531.6(OTC):c.128T>C (p.Leu43Pro) AND Ornithine carbamoyltransferase deficiency

Germline classification:: Pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001201344.1

Allele description [Variation Report for NM_000531.6(OTC):c.128T>C (p.Leu43Pro)]

NM_000531.6(OTC):c.128T>C (p.Leu43Pro)

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.128T>C (p.Leu43Pro)

HGVS:

NC_000023.11:g.38367341T>C
NG_008471.1:g.19859T>C
NM_000531.6:c.128T>CMANE SELECT
NP_000522.3:p.Leu43Pro
LRG_846t1:c.128T>C
LRG_846:g.19859T>C
LRG_846p1:p.Leu43Pro
NC_000023.10:g.38226594T>C
NM_000531.5:c.128T>C

Protein change:

L43P

Links:

dbSNP: rs2068301622

NCBI 1000 Genomes Browser:

rs2068301622

Molecular consequence:

NM_000531.6:c.128T>C - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001281719	Molecular Genetics laboratory, Necker Hospital	no assertion criteria provided	Pathogenic	maternal	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001281719

Molecular Genetics laboratory, Necker Hospital

no assertion criteria provided

Pathogenic

maternal

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Molecular Genetics laboratory, Necker Hospital, SCV001281719.1

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

Description

1 boy with a neonatal form and 1 girl with a chronic form

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

Last Updated: Mar 26, 2023

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