ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.788A>C (p.Glu263Ala)

dbSNP: rs2151135057
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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 RCV001875191 SCV002144041 uncertain significance Fanconi anemia 2023-08-17 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1373448). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 263 of the SLX4 protein (p.Glu263Ala).

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