ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2584C>T (p.Arg862Ter) (rs200715208)

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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 RCV000778907 SCV000915315 uncertain significance Fanconi anemia, complementation group P 2017-05-15 criteria provided, single submitter clinical testing The SLX4 gene is one of at least 18 genes in which variants are known to cause Fanconi anemia. The SLX4 c.2584C>T (p.Arg862Ter) variant is a stop-gained variant predicted to result in 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. The p.Arg862Ter variant is reported at a frequency of 0.00015 in the European (Finnish) population of the Exome Aggregation Consortium, but this is based on one allele so the variant is presumed to be rare. 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 Fanconi anemia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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