ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4618G>A (p.Glu1540Lys)

gnomAD frequency: 0.00001  dbSNP: rs769950582
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001053846 SCV001218128 uncertain significance Fanconi anemia 2023-12-28 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1540 of the SLX4 protein (p.Glu1540Lys). This variant is present in population databases (rs769950582, gnomAD 0.08%). 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: 849812). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Department of Thoracic Surgery and State Key Laboratory of Genetic Engineering, Fudan University Shanghai Cancer Center RCV003483767 SCV004228495 drug response Olaparib response 2023-11-01 no assertion criteria provided research Germline variants of Holliday junction resolvase genes in multiple primary malignancies involving lung cancer lead to Olaparib sensitization.

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