ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.3626T>C (p.Met1209Thr)

gnomAD frequency: 0.00018  dbSNP: rs200569046
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192871 SCV000247089 uncertain significance not specified 2014-06-10 criteria provided, single submitter clinical testing
Invitae RCV000655217 SCV000777143 likely benign Congenital hyperammonemia, type I 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000655217 SCV001303509 likely benign Congenital hyperammonemia, type I 2018-01-13 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Elsea Laboratory, Baylor College of Medicine RCV000655217 SCV001424188 uncertain significance Congenital hyperammonemia, type I 2020-04-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000655217 SCV001457530 benign Congenital hyperammonemia, type I 2020-01-08 no assertion criteria provided clinical testing

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