ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.3919_3921del (p.Lys1307del)

dbSNP: rs775548839
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001067589 SCV001232657 uncertain significance Fanconi anemia 2022-07-19 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 861138). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (rs775548839, gnomAD 0.003%). This variant, c.3919_3921del, results in the deletion of 1 amino acid(s) of the SLX4 protein (p.Lys1307del), but otherwise preserves the integrity of the reading frame.
Fulgent Genetics, Fulgent Genetics RCV002482114 SCV002784368 uncertain significance Fanconi anemia complementation group P 2022-05-16 criteria provided, single submitter clinical testing

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