ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2194G>A (p.Gly732Arg)

dbSNP: rs202189103
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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 RCV002030034 SCV002115069 uncertain significance Fanconi anemia 2022-06-20 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (rs202189103, gnomAD 0.01%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 732 of the SLX4 protein (p.Gly732Arg).
Fulgent Genetics, Fulgent Genetics RCV002482402 SCV002803219 uncertain significance Fanconi anemia complementation group P 2021-11-10 criteria provided, single submitter clinical testing

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