ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4546G>C (p.Gly1516Arg)

dbSNP: rs775915651
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001221912 SCV001393983 uncertain significance Fanconi anemia 2023-09-14 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 950241). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1516 of the SLX4 protein (p.Gly1516Arg).
Genetic Services Laboratory, University of Chicago RCV001819917 SCV002064683 uncertain significance not specified 2019-07-14 criteria provided, single submitter clinical testing

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