ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.5305_5322dup (p.Lys1769_Gln1774dup)

dbSNP: rs2151115686
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002046653 SCV002107736 uncertain significance Fanconi anemia 2021-06-28 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.5305_5322dup, results in the insertion of 6 amino acid(s) to the SLX4 protein (p.Lys1769_Gln1774dup), but otherwise preserves the integrity of the reading frame.

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