ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1162A>T (p.Ser388Cys)

gnomAD frequency: 0.00001  dbSNP: rs199774640
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001759024 SCV002006661 uncertain significance not provided 2019-12-11 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002506805 SCV002816521 uncertain significance Fanconi anemia complementation group P 2024-04-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003523106 SCV004290431 uncertain significance Fanconi anemia 2023-12-02 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 388 of the SLX4 protein (p.Ser388Cys). This variant is present in population databases (rs199774640, gnomAD 0.004%). 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: 1317152). 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.

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