ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.700G>A (p.Glu234Lys)

gnomAD frequency: 0.00002  dbSNP: rs149779179
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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 RCV001907047 SCV002181870 uncertain significance Fanconi anemia 2021-11-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SLX4-related conditions. 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant is present in population databases (rs149779179, gnomAD 0.003%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 234 of the SLX4 protein (p.Glu234Lys).

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