ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2039_2105dup (p.Leu703_Tyr704insTrpArgHisGlyGlnTerLeu)

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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 RCV003524410 SCV004313689 pathogenic Fanconi anemia 2023-08-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr704Trpfs*6) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. For these reasons, this variant has been classified as Pathogenic.

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