ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4367G>A (p.Arg1456His)

gnomAD frequency: 0.00003  dbSNP: rs774858804
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237489 SCV002009357 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001761838 SCV002798233 uncertain significance Fanconi anemia complementation group P 2022-01-07 criteria provided, single submitter clinical testing
Invitae RCV002540731 SCV003249149 uncertain significance Fanconi anemia 2024-01-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1456 of the SLX4 protein (p.Arg1456His). This variant is present in population databases (rs774858804, gnomAD 0.02%). 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: 1319486). 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 histidine 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.

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