ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1406dup (p.Leu470fs)

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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 RCV003091589 SCV003476910 pathogenic Fanconi anemia 2023-05-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This sequence change creates a premature translational stop signal (p.Leu470Ilefs*8) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. ClinVar contains an entry for this variant (Variation ID: 2163057). For these reasons, this variant has been classified as Pathogenic.

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