NM_000531.6(OTC):c.626C>T (p.Ala209Val) AND not provided

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Apr 1, 2021
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:: RCV000083518.23

Allele description [Variation Report for NM_000531.6(OTC):c.626C>T (p.Ala209Val)]

NM_000531.6(OTC):c.626C>T (p.Ala209Val)

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.626C>T (p.Ala209Val)

HGVS:

NC_000023.11:g.38403703C>T
NG_008471.1:g.56221C>T
NM_000531.6:c.626C>TMANE SELECT
NP_000522.3:p.Ala209Val
LRG_846t1:c.626C>T
LRG_846:g.56221C>T
LRG_846p1:p.Ala209Val
NC_000023.10:g.38262956C>T
NM_000531.5:c.626C>T
P00480:p.Ala209Val

Protein change:

A209V

Links:

UniProtKB: P00480#VAR_004909; dbSNP: rs72558417

NCBI 1000 Genomes Browser:

rs72558417

Molecular consequence:

NM_000531.6:c.626C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000115604	GenMed Metabolism Lab	no assertion criteria provided	pathogenic	unknown	not provided	PubMed (1) [See all records that cite this PMID]
SCV001747043	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Apr 1, 2021)	germline	clinical testing	Citation Link,
SCV004175165	Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare	no assertion criteria provided	Likely pathogenic (May 29, 2022)	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000115604

GenMed Metabolism Lab

no assertion criteria provided

pathogenic

unknown

not provided

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

SCV001747043

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Pathogenic
(Apr 1, 2021)

germline

clinical testing

Citation Link,

SCV004175165

Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare

no assertion criteria provided

Likely pathogenic
(May 29, 2022)

unknown

clinical testing

Description

p.Ala209Val, Neonatal: SCV000115604

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	not provided	not provided	not provided	not provided	1	not provided	literature only
South East Asian	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: a hypothesis on the molecular mechanism of the OTC deficiency.

García-Pérez MA, Climent C, Briones P, Vilaseca MA, Rodés M, Rubio V.

J Inherit Metab Dis. 1997 Nov;20(6):769-77.

PubMed [citation]

PMID:: 9427144

Details of each submission

From GenMed Metabolism Lab, SCV000115604.1

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

Description

Converted during submission to Pathogenic.

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

From CeGaT Center for Human Genetics Tuebingen, SCV001747043.20

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

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

From Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare, SCV004175165.1

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

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

Last Updated: Oct 20, 2024

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