NM_000531.6(OTC):c.659C>T (p.Pro220Leu) AND not provided

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Oct 1, 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:: RCV000083526.11

Allele description [Variation Report for NM_000531.6(OTC):c.659C>T (p.Pro220Leu)]

NM_000531.6(OTC):c.659C>T (p.Pro220Leu)

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.659C>T (p.Pro220Leu)

HGVS:

NC_000023.11:g.38403736C>T
NG_008471.1:g.56254C>T
NM_000531.6:c.659C>TMANE SELECT
NP_000522.3:p.Pro220Leu
LRG_846t1:c.659C>T
LRG_846:g.56254C>T
LRG_846p1:p.Pro220Leu
NC_000023.10:g.38262989C>T
NM_000531.5:c.659C>T

Protein change:

P220L

Links:

dbSNP: rs72558426

NCBI 1000 Genomes Browser:

rs72558426

Molecular consequence:

NM_000531.6:c.659C>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
SCV000115612	GenMed Metabolism Lab	no assertion criteria provided	pathogenic	unknown	not provided	PubMed (1) [See all records that cite this PMID]
SCV004164824	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely pathogenic (Oct 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000115612

GenMed Metabolism Lab

no assertion criteria provided

pathogenic

unknown

not provided

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

SCV004164824

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

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

Likely pathogenic
(Oct 1, 2023)

germline

clinical testing

Citation Link

Description

p.Pro220Leu, Neonatal,: SCV000115612

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

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 GenMed Metabolism Lab, SCV000115612.1

#	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, SCV004164824.10

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

Description

OTC: PM1, PM2, PM5, PP4, PS4:Supporting

#	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

Last Updated: Oct 20, 2024

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