ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4481_4525del (p.Gly1494_Ser1508del)

dbSNP: rs750613465
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001338635 SCV001532321 uncertain significance Fanconi anemia 2023-11-28 criteria provided, single submitter clinical testing This variant, c.4481_4525del, results in the deletion of 15 amino acid(s) of the SLX4 protein (p.Gly1494_Ser1508del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs750613465, 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: 1035729). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001751661 SCV002007700 uncertain significance not provided 2021-03-04 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In-frame deletion of 15 amino acids in a non-repeat region; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002486355 SCV002778499 uncertain significance Fanconi anemia complementation group P 2021-08-25 criteria provided, single submitter clinical testing

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