ClinVar Miner

Submissions for variant NM_000504.4(F10):c.1043G>A (p.Trp348Ter) (rs1566922655)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778386 SCV000914610 uncertain significance Factor X deficiency 2018-11-07 criteria provided, single submitter clinical testing The F10 c.1043G>A (p.Trp348Ter) 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, 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, Exome Aggregation Consortium, or the Genome Aggregation Database. This variant is located in the last exon and may escape nonsense-mediated decay. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for factor X deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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