ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2843C>T (p.Ala948Val)

gnomAD frequency: 0.00002  dbSNP: rs781462011
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001059315 SCV001223937 uncertain significance Fanconi anemia 2023-10-10 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 948 of the SLX4 protein (p.Ala948Val). This variant is present in population databases (rs781462011, gnomAD 0.01%). 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: 854298). 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 valine 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238295 SCV002010224 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001819783 SCV002066342 uncertain significance not specified 2018-08-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001760015 SCV002806940 uncertain significance Fanconi anemia complementation group P 2022-01-27 criteria provided, single submitter clinical testing

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