ClinVar Miner

Submissions for variant NM_183075.3(CYP2U1):c.1168C>T (p.Arg390Ter)

dbSNP: rs772400670
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252212 SCV002523368 pathogenic See cases 2019-11-29 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1, PM2, PP5
Labcorp Genetics (formerly Invitae), Labcorp RCV002531424 SCV003525599 pathogenic Spastic paraplegia 2022-10-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg390*) in the CYP2U1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CYP2U1 are known to be pathogenic (PMID: 23176821, 26936192, 27292318). This variant is present in population databases (rs772400670, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with clinical features of hereditary spastic paraplegia (PMID: 26914923). ClinVar contains an entry for this variant (Variation ID: 562229). For these reasons, this variant has been classified as Pathogenic.
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) RCV000681665 SCV004934093 pathogenic Hereditary spastic paraplegia 56 2024-04-23 criteria provided, single submitter research This variant is classified as pathogenic because it is a stop-gain variant identified in the homozygote state in three patients. In silico prediction tools, including CADD and MutationTaster, predict this variant to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 562229), it’s classified as pathogenic. This variant is not reported in the 1000 Genomes Project but is present at a low frequency in the gnomAD database [AF = 1.219e-5]. It is associated with the following publication (PMID: 26914923, 30564185, 34546337, 34828401).
IRCCS Fondazione Stella Maris, University of Pisa RCV000681665 SCV000809044 pathogenic Hereditary spastic paraplegia 56 no assertion criteria provided research
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana RCV000681665 SCV002500969 pathogenic Hereditary spastic paraplegia 56 2022-04-21 no assertion criteria provided research MACULAR DISEASE

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