ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1129C>T (p.Gln377Ter)

dbSNP: rs1171341642
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003637577 SCV004554503 pathogenic Fanconi anemia 2023-05-18 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Gln377*) 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). For these reasons, this variant has been classified as Pathogenic.

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