ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2384C>G (p.Ser795Ter)

dbSNP: rs2151126006
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002276393 SCV002563304 likely pathogenic not provided 2019-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003096207 SCV003284020 pathogenic Fanconi anemia 2022-10-14 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: 1701275). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser795*) 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).
GeneDx RCV002276393 SCV005442956 likely pathogenic not provided 2024-07-02 criteria provided, single submitter clinical testing Identified in individuals with cancer (including ovarian cancer, neuroblastoma, and colorectal cancer) from case control studies, but detailed clinical information and familial segregation were not provided (PMID: 29478780, 32546565, 34308104); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32546565, 34308104, 29478780)

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