ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.3029C>T (p.Thr1010Met)

gnomAD frequency: 0.00546  dbSNP: rs79627159
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000865123 SCV001006040 benign Congenital hyperammonemia, type I 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000865123 SCV001298657 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV001585815 SCV001813748 likely benign not provided 2019-01-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24123366)
Laboratory of Metabolic Disorders, Peking University First Hospital RCV000865123 SCV003762251 uncertain significance Congenital hyperammonemia, type I 2023-01-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003928372 SCV004746618 benign CPS1-related disorder 2022-05-02 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000865123 SCV001457525 benign Congenital hyperammonemia, type I 2019-11-11 no assertion criteria provided clinical testing

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