ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1243G>A (p.Glu415Lys)

gnomAD frequency: 0.00006  dbSNP: rs146021821
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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 RCV001042352 SCV001206029 uncertain significance Fanconi anemia 2022-10-05 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 415 of the SLX4 protein (p.Glu415Lys). This variant is present in population databases (rs146021821, gnomAD 0.02%). This missense change has been observed in individual(s) with aplastic anemia and/or breast cancer (PMID: 23840564, 24763404). ClinVar contains an entry for this variant (Variation ID: 840380). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; 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 RCV002481895 SCV002776290 uncertain significance Fanconi anemia complementation group P 2024-03-26 criteria provided, single submitter clinical testing

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