ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.922G>A (p.Val308Met)

gnomAD frequency: 0.00003  dbSNP: rs775151113
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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 RCV000501827 SCV000597147 uncertain significance not specified 2016-12-20 criteria provided, single submitter clinical testing
Invitae RCV001367423 SCV001563771 uncertain significance Fanconi anemia 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 308 of the SLX4 protein (p.Val308Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs775151113, ExAC 0.001%). 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: 436785). 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 tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV002496957 SCV002806978 uncertain significance Fanconi anemia complementation group P 2022-03-01 criteria provided, single submitter clinical testing

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