NM_000531.6(OTC):c.583G>A (p.Gly195Arg) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Mar 31, 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:: RCV000083497.4

Allele description [Variation Report for NM_000531.6(OTC):c.583G>A (p.Gly195Arg)]

NM_000531.6(OTC):c.583G>A (p.Gly195Arg)

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.583G>A (p.Gly195Arg)

Other names:

p.G195R:GGG>AGG

HGVS:

NC_000023.11:g.38403660G>A
NG_008471.1:g.56178G>A
NM_000531.6:c.583G>AMANE SELECT
NP_000522.3:p.Gly195Arg
LRG_846t1:c.583G>A
LRG_846:g.56178G>A
LRG_846p1:p.Gly195Arg
NC_000023.10:g.38262913G>A
NM_000531.5:c.583G>A
P00480:p.Gly195Arg

Protein change:

G195R

Links:

UniProtKB: P00480#VAR_004899; dbSNP: rs67294955

NCBI 1000 Genomes Browser:

rs67294955

Molecular consequence:

NM_000531.6:c.583G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000115583	GenMed Metabolism Lab	no assertion criteria provided	pathogenic	unknown	not provided	PubMed (1) [See all records that cite this PMID]
SCV000239033	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Mar 31, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000115583

GenMed Metabolism Lab

no assertion criteria provided

pathogenic

unknown

not provided

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

SCV000239033

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Mar 31, 2021)

germline

clinical testing

Citation Link

Description

p.Gly195Arg, Neonatal, CpG dinucleotide, expression studies show no activity and reduced OTC protein: SCV000115583

Help

Summary from all submissions

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

Citations

PubMed

Seven new mutations in the human ornithine transcarbamylase gene.

Tuchman M, Plante RJ, McCann MT, Qureshi AA.

Hum Mutat. 1994;4(1):57-60. No abstract available.

PubMed [citation]

PMID:: 7951259

Details of each submission

From GenMed Metabolism Lab, SCV000115583.1

#	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 GeneDx, SCV000239033.11

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

Description

Published functional studies demonstrate this variant is associated with approximately 2.5% residual enzyme activity (Kogo et al., 1998); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 8786061, 9609999, 9286441, 17041896, 17044854, 29623395, 19138872, 22728053, 8112735, 7951259, 30175132, 28324312, 32934962, 32034732, 33272297)

#	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		not provided	not provided	not provided	not provided

Last Updated: Feb 20, 2024

ClinVar

Relating variation to medicine