ClinVar Miner

Submissions for variant NM_022464.5(SIL1):c.1060C>T (p.Gln354Ter)

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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 RCV000778753 SCV000915117 uncertain significance Marinesco-Sjögren syndrome 2018-12-04 criteria provided, single submitter clinical testing The SIL1 c.1060C>T (p.Gln354Ter) variant is a stop-gained variant that is predicted to cause premature truncation of the protein. This variant is located in the last exon and may escape nonsense-mediated decay. The p.Gln354Ter variant has been reported in a homozygous state in two siblings with Marinesco-Sjogren syndrome (Horvers et al. 2013). Both parents were found to be heterozygous carriers for this variant. The p.Gln354Ter variant was absent from 186 control chromosomes and was not found in the 1000 Genomes Project, the Exome Sequencing Project, the Exome Aggregation Consortium or the Genome Aggregation Database. Based on the evidence and due to the potential impact of stop-gained variants, the p.Gln354Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for Marinesco-Sjogren syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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