ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.5264C>T (p.Ala1755Val)

gnomAD frequency: 0.00019  dbSNP: rs372921011
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502042 SCV000597153 uncertain significance not specified 2017-02-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001062092 SCV001226868 uncertain significance Fanconi anemia 2023-10-29 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1755 of the SLX4 protein (p.Ala1755Val). This variant is present in population databases (rs372921011, gnomAD 0.06%). 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: 436788). 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 disruptive. 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.
Baylor Genetics RCV001332684 SCV001525070 uncertain significance Fanconi anemia complementation group P 2020-11-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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