ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4523C>A (p.Ser1508Ter)

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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 RCV003112593 SCV003789704 pathogenic Fanconi anemia 2023-05-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 2420933). This premature translational stop signal has been observed in individual(s) with breast and ovarian cancer (PMID: 26689913, 32546565). This variant is present in population databases (rs112694849, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Ser1508*) 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).

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