ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.2265C>A (p.Ser755=)

dbSNP: rs41272667
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252194 SCV000308495 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000296134 SCV000426833 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 RCV000252194 SCV000520332 benign not specified 2016-08-29 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000296134 SCV000659341 benign Congenital hyperammonemia, type I 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004708139 SCV005241021 benign not provided criteria provided, single submitter not provided
CeGaT Center for Human Genetics Tuebingen RCV004708139 SCV005330097 benign not provided 2024-10-01 criteria provided, single submitter clinical testing CPS1: BP4, BP7, BS1, BS2
Natera, Inc. RCV000296134 SCV001463783 benign Congenital hyperammonemia, type I 2020-09-16 no assertion criteria provided clinical testing

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