ClinVar Miner

Submissions for variant NM_000130.5(F5):c.5646G>A (p.Trp1882Ter)

dbSNP: rs1557908012
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000778945 SCV000915366 uncertain significance Factor V deficiency 2018-08-27 criteria provided, single submitter clinical testing The F5 c.5646G>A (p.Trp1882Ter) variant is a stop-gained variant that is predicted to cause premature truncation of the protein. The p.Trp1882Ter variant is described in one study by Montefusco et al. (2003), in which it is referred to as p.Trp1854Ter and identified in a homozygous state in one individual with a severe bleeding disorder and very significantly reduced factor V levels. Controls data are unavailable for the p.Trp1882Ter variant, which is not found in the 1000 Genomes Project, the Exome Sequencing Project, the Exome Aggregation Consortium, or the Genome Aggregation Database despite being found in a region of good sequencing coverage. It is therefore presumed to be rare. Due to the potential impact of stop-gained variants and the limited supporting evidence, the p.Trp1882Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for factor V deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Illumina Laboratory Services, Illumina RCV001096268 SCV001252467 benign Thrombophilia due to activated protein C resistance 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV001096269 SCV001252468 benign Thrombophilia due to thrombin defect 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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