ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.3141+15del

dbSNP: rs577707531
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000339021 SCV000426840 uncertain significance Congenital hyperammonemia, type I 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000513937 SCV000569051 likely benign not provided 2018-04-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 18666241)
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513937 SCV000610055 likely benign not provided 2017-04-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000513937 SCV000697876 benign not provided 2017-05-14 criteria provided, single submitter clinical testing Variant summary: c.3141+15delA in CPS1 gene is an intronic change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this do not affect a normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of ExAC at frequency of 0.007693 (831/108016chrs tested), predominantly in individuals of European descent (0.01209; 715/ 59126 chrs tested), including two homozygous occurrences. The observed frequencies exceed the maximum expected allele frequency for a pathogenic variant of 0.0015%, suggesting that it is a benign polymorphism. The variant of interest has been reported as Benign by a reputable database/clinical laboratory. Taking together, based on the prevalence of this variant in general population the variant was classified as Benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000339021 SCV001732366 benign Congenital hyperammonemia, type I 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000513937 SCV004011292 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing CPS1: BS2
Natera, Inc. RCV000339021 SCV002076256 benign Congenital hyperammonemia, type I 2019-09-27 no assertion criteria provided clinical testing

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