ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.499G>A (p.Glu167Lys)

gnomAD frequency: 0.00004  dbSNP: rs151018140
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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 RCV002010487 SCV002297247 uncertain significance Fanconi anemia 2022-10-12 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 167 of the SLX4 protein (p.Glu167Lys). This variant is present in population databases (rs151018140, gnomAD 0.007%). 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: 1499191). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; 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. 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.
Fulgent Genetics, Fulgent Genetics RCV002507773 SCV002809372 uncertain significance Fanconi anemia complementation group P 2022-02-25 criteria provided, single submitter clinical testing

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