ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4862del (p.Leu1621fs) (rs1567166544)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701890 SCV000830713 pathogenic Fanconi anemia 2018-02-05 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SLX4 gene (p.Leu1621Cysfs*94). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 214 amino acids of the SLX4 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SLX4-related disease. A different truncation (p.Gln1744Alafs*34) that lies downstream of this variant has been determined to be pathogenic (PMID: 19596235, 19596236, Invitae). This suggests that deletion of this region of the SLX4 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.

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