ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.3739G>A (p.Glu1247Lys)

gnomAD frequency: 0.00001  dbSNP: rs978074181
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001898019 SCV002165395 uncertain significance Fanconi anemia 2021-07-01 criteria provided, single submitter clinical testing 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with oropharyngeal cancer, leukopenia and anemia (PMID: 28678401). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 1247 of the SLX4 protein (p.Glu1247Lys). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and lysine. 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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