ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2401GAG[1] (p.Glu802del)

dbSNP: rs2151125964
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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 RCV001987000 SCV002285393 uncertain significance Fanconi anemia 2021-08-03 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant, c.2404_2406del, results in the deletion of 1 amino acid(s) of the SLX4 protein (p.Glu802del), but otherwise preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with SLX4-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.

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