ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val) (rs141373204)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224815 SCV000281406 uncertain significance not provided 2016-01-21 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000224815 SCV000575297 uncertain significance not provided 2017-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000224815 SCV000577569 uncertain significance not provided 2018-03-23 criteria provided, single submitter clinical testing The I1215V variant has been reported previously in a patient with carbamoylphosphate synthetase I (CPS1) deficiency who also harbored a second variant in the CPS1 gene (Kurokawa et al. 2007). The I1215V variant is observed in 31/11564 (0.27%) alleles from individuals of Latino background, in the ExAC dataset including a homozygous individual (Lek et al., 2016). The I1215V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Isoleucine and Valine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000986999 SCV000777135 likely benign Congenital hyperammonemia, type I 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000224815 SCV000855927 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764359 SCV000895382 uncertain significance Congenital hyperammonemia, type I; Pulmonary hypertension, neonatal, susceptibility to 2018-10-31 criteria provided, single submitter clinical testing
Mendelics RCV000986999 SCV001136169 uncertain significance Congenital hyperammonemia, type I 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000986999 SCV001298307 uncertain significance Congenital hyperammonemia, type I 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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