ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4693dup (p.Gln1565fs)

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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 RCV002926709 SCV003253710 pathogenic Fanconi anemia 2022-08-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1565Profs*16) in the SLX4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLX4 are known to be pathogenic (PMID: 21240277). This variant is present in population databases (rs767572643, gnomAD 0.05%). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SLX4-related conditions.

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