NC_000009.12:g.(?_130489323)_(130489474_?)del AND Citrullinemia type I

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 25, 2019
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:: RCV001033226.1

Allele description [Variation Report for NC_000009.12:g.(?_130489323)_(130489474_?)del]

NC_000009.12:g.(?_130489323)_(130489474_?)del

Gene:

ASS1:argininosuccinate synthase 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

9q34.11

Genomic location:

Chr9: 133364710 - 133364861 (on Assembly GRCh37)

Preferred name:

NC_000009.12:g.(?_130489323)_(130489474_?)del

HGVS:

NC_000009.12:g.(?_130489323)_(130489474_?)del
NC_000009.11:g.(?_133364710)_(133364861_?)del

Condition(s)

Name:: Citrullinemia type I (CTNL1)
Synonyms:: Classic citrullinemia; ASS deficiency; Citrullinemia 1; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008988; MedGen: C4721769; Orphanet: 247525; OMIM: 215700

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001196533	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely pathogenic (Nov 25, 2019)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 23246278, 8792870, 12815590, 28302489, 7977368, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001196533

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely pathogenic
(Nov 25, 2019)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

High prevalence of neonatal presentation in Korean patients with citrullinemia type 1, and their shared mutations.

Lee BH, Kim YM, Heo SH, Kim GH, Choi IH, Lee BS, Kim EA, Kim KS, Jhang WK, Park SJ, Yoo HW.

Mol Genet Metab. 2013 Jan;108(1):18-24. doi: 10.1016/j.ymgme.2012.11.011. Epub 2012 Nov 28.

PubMed [citation]

PMID:: 23246278

Characterization of human wild-type and mutant argininosuccinate synthetase proteins expressed in bacterial cells.

Shaheen N, Kobayashi K, Terazono H, Fukushige T, Horiuchi M, Saheki T.

Enzyme Protein. 1994-1995;48(5-6):251-64.

PubMed [citation]

PMID:: 8792870

See all PubMed Citations (6)

Details of each submission

From Invitae, SCV001196533.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

This variant is an in-frame deletion of the genomic region encompassing exon 13 of the ASS1 gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with ASS1-related conditions. This variant disrupts the p.Arg304 amino acid residue in ASS1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 12815590, 7977368, 28302489, 23246278, 8792870). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

#	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		not provided	not provided	not provided	not provided

Last Updated: May 12, 2024

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