ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4549G>T (p.Glu1517Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003525339 SCV004296376 pathogenic Fanconi anemia 2023-05-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with breast or ovarian cancer (PMID: 23211700). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu1517*) 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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