ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.380T>A (p.Leu127Ter) (rs1228072399)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778727 SCV000915083 uncertain significance CYP4V2-Related Disorders 2018-10-30 criteria provided, single submitter clinical testing The CYP4V2 c.380T>A (p.Leu127Ter) variant is a stop-gained variant that is predicted to result in a premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, the Exome Aggregation Consortium, or the Genome Aggregation Database in a region of good sequencing coverage so the variant is presumed to be rare. Based on the limited evidence and potential impact of stop-gained variants, the p.Leu127Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for CYP4V2-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Invitae RCV001388313 SCV001589246 pathogenic not provided 2020-07-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu127*) in the CYP4V2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CYP4V2-related conditions. ClinVar contains an entry for this variant (Variation ID: 631943). Loss-of-function variants in CYP4V2 are known to be pathogenic (PMID: 15042513, 25118264). For these reasons, this variant has been classified as Pathogenic.

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