ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.3671A>T (p.Glu1224Val)

gnomAD frequency: 0.00036  dbSNP: rs566584111
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000541710 SCV000626423 uncertain significance Fanconi anemia 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 1224 of the SLX4 protein (p.Glu1224Val). This variant is present in population databases (rs566584111, gnomAD 0.1%). 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: 456312). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
GeneDx RCV001775844 SCV002013358 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002490949 SCV002777601 uncertain significance Fanconi anemia complementation group P 2022-04-10 criteria provided, single submitter clinical testing

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