ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4381_4391del (p.Ala1461fs)

dbSNP: rs751653739
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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 RCV001387121 SCV001587661 pathogenic Fanconi anemia 2023-11-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala1461Profs*2) 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 (rs751653739, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1073979). For these reasons, this variant has been classified as Pathogenic.

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