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NM_054012.4(ASS1):c.805G>A (p.Val269Met)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Pathogenic(3);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 8, 2020
Accession:
VCV000193968.6
Variation ID:
193968
Description:
single nucleotide variant
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NM_054012.4(ASS1):c.805G>A (p.Val269Met)

Allele ID
191131
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 130480416 (GRCh38) GRCh38 UCSC
9: 133355803 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.133355803G>A
NC_000009.12:g.130480416G>A
NM_054012.4:c.805G>A MANE Select NP_446464.1:p.Val269Met missense
... more HGVS
Protein change
V269M
Other names
-
Canonical SPDI
NC_000009.12:130480415:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00006
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD), exomes 0.00005
Trans-Omics for Precision Medicine (TOPMed) 0.00006
Links
ClinGen: CA274963
UniProtKB: P00966#VAR_015901
dbSNP: rs370595480
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 3 criteria provided, multiple submitters, no conflicts Apr 13, 2017 RCV000174211.7
Pathogenic 1 criteria provided, single submitter Oct 8, 2020 RCV001290023.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jun 22, 2018 RCV000412912.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ASS1 - - GRCh38
GRCh37
435 472

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 07, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000490413.1
Submitted: (Dec 21, 2016)
Evidence details
Comment:
The V269M missense variant in the ASS1 gene has been reported previously in association with classic citrullinemia (Gao et al., 2003). It was hypothesized that … (more)
Likely pathogenic
(Apr 13, 2017)
criteria provided, single submitter
Method: clinical testing
Citrullinemia
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000593462.1
Submitted: (Jul 05, 2017)
Evidence details
Uncertain significance
(Jun 22, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000225474.5
Submitted: (Sep 19, 2018)
Evidence details
Publications
PubMed (1)
Other databases
http://www.egl-eurofins.com/emvc…
Pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Citrullinemia type I
Allele origin: germline
Baylor Genetics
Accession: SCV001163590.1
Submitted: (Sep 27, 2019)
Evidence details
Pathogenic
(Oct 08, 2020)
criteria provided, single submitter
Method: clinical testing
Citrullinemia
Allele origin: germline
Invitae
Accession: SCV000957991.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces valine with methionine at codon 269 of the ASS1 protein (p.Val269Met). The valine residue is highly conserved and there is a … (more)
Uncertain significance
(Apr 18, 2017)
no assertion criteria provided
Method: clinical testing
Citrullinemia type I
Allele origin: unknown
Counsyl
Accession: SCV000800723.2
Submitted: (Aug 05, 2019)
Evidence details
Publications
PubMed (2)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1). Häberle J Molecular genetics and metabolism 2003 PMID: 14680976
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients. Gao HZ Human mutation 2003 PMID: 12815590
Neonatal screening for citrullinaemia. Sander J European journal of pediatrics 2003 PMID: 12684898
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ASS1 - - - -

Text-mined citations for rs370595480...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Aug 27, 2021