ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4768C>G (p.Gln1590Glu)

gnomAD frequency: 0.00001  dbSNP: rs148228302
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001359995 SCV001555886 uncertain significance Fanconi anemia 2022-04-04 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 1590 of the SLX4 protein (p.Gln1590Glu). This variant is present in population databases (rs148228302, gnomAD 0.002%). 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: 1051899). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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.
GeneDx RCV001776219 SCV002013338 uncertain significance not provided 2021-05-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Observed in individuals with ovarian cancer (Song 2021); This variant is associated with the following publications: (PMID: 32546565)
Fulgent Genetics, Fulgent Genetics RCV002486505 SCV002792906 uncertain significance Fanconi anemia complementation group P 2021-07-16 criteria provided, single submitter clinical testing

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