ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.3355G>A (p.Ala1119Thr)

gnomAD frequency: 0.01465  dbSNP: rs76340296
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Total submissions: 5
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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 RCV000224218 SCV000280729 likely benign not provided 2015-08-19 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Illumina Laboratory Services, Illumina RCV000403764 SCV000426841 benign Congenital hyperammonemia, type I 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000430042 SCV000521522 benign not specified 2016-02-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000403764 SCV001013771 benign Congenital hyperammonemia, type I 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000403764 SCV002076259 benign Congenital hyperammonemia, type I 2019-12-04 no assertion criteria provided clinical testing

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