ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4850C>G (p.Ser1617Ter)

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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 RCV002820239 SCV003203498 pathogenic Fanconi anemia 2022-06-03 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser1617*) 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 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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