ClinVar Miner

Submissions for variant NM_183075.3(CYP2U1):c.1151G>T (p.Arg384Ile)

gnomAD frequency: 0.00214  dbSNP: rs142676629
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000554796 SCV000629522 benign Spastic paraplegia 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001696939 SCV000732176 likely benign not provided 2020-12-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29034544, 30564185, 32006740)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848930 SCV002104511 likely benign Hereditary spastic paraplegia 2021-08-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001696939 SCV004148671 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing CYP2U1: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003979950 SCV004796011 likely benign CYP2U1-related disorder 2023-05-02 no assertion criteria provided 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).

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