NM_000048.4(ASL):c.1135C>T (p.Arg379Cys) AND not provided

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Aug 5, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000185769.8

Allele description [Variation Report for NM_000048.4(ASL):c.1135C>T (p.Arg379Cys)]

NM_000048.4(ASL):c.1135C>T (p.Arg379Cys)

Gene:

ASL:argininosuccinate lyase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q11.21

Genomic location:

Preferred name:

NM_000048.4(ASL):c.1135C>T (p.Arg379Cys)

Other names:

p.R379C:CGC>TGC

HGVS:

NC_000007.14:g.66092078C>T
NG_009288.1:g.21290C>T
NM_000048.4:c.1135C>TMANE SELECT
NM_001024943.2:c.1135C>T
NM_001024944.2:c.1075C>T
NM_001024946.2:c.1057C>T
NP_000039.2:p.Arg379Cys
NP_001020114.1:p.Arg379Cys
NP_001020115.1:p.Arg359Cys
NP_001020117.1:p.Arg353Cys
NC_000007.13:g.65557065C>T
NM_000048.3:c.1135C>T
NM_001024946.1:c.1057C>T
P04424:p.Arg379Cys

Protein change:

R353C; ARG379CYS

Links:

UniProtKB: P04424#VAR_017573; OMIM: 608310.0006; dbSNP: rs28940287

NCBI 1000 Genomes Browser:

rs28940287

Molecular consequence:

NM_000048.4:c.1135C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001024943.2:c.1135C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001024944.2:c.1075C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001024946.2:c.1057C>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
SCV000238700	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Aug 5, 2021)	germline	clinical testing	Citation Link,
SCV000700800	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Likely pathogenic (Dec 22, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000238700

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Aug 5, 2021)

germline

clinical testing

Citation Link,

SCV000700800

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Likely pathogenic
(Dec 22, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000238700.14

#	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 that R379C is predicted to affect the stability of the argininosuccinate lyase enzyme and is associated with 10% of wild-type argininosuccinate lyase activity (Hu et al., 2015; Engel et al., 2012); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 31943503, 31589614, 32152836, 20236848, 12408190, 27515243, 28643139, 26745957, 24166829, 12384776, 25778938, 21667091, 25087612)

#	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

From Eurofins Ntd Llc (ga), SCV000700800.2

#	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	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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