ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser)

gnomAD frequency: 0.00131  dbSNP: rs150966847
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177871 SCV000229821 uncertain significance not provided 2015-05-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000330453 SCV000426848 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000330453 SCV000823966 likely benign Congenital hyperammonemia, type I 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764360 SCV000895383 uncertain significance Congenital hyperammonemia, type I; Pulmonary hypertension, neonatal, susceptibility to 2018-10-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003927652 SCV004738165 likely benign CPS1-related condition 2022-01-31 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000330453 SCV001457535 uncertain significance Congenital hyperammonemia, type I 2019-12-17 no assertion criteria provided clinical testing

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