ClinVar Miner

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

dbSNP: rs1567166544
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000701890 SCV000830713 pathogenic Fanconi anemia 2018-01-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. This variant has not been reported in the literature in individuals with SLX4-related disease. This variant is not present in population databases (ExAC no frequency). 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.

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