ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1216G>C (p.Glu406Gln)

gnomAD frequency: 0.00004  dbSNP: rs779596439
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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 RCV001994445 SCV002275328 uncertain significance Fanconi anemia 2022-09-01 criteria provided, single submitter clinical testing 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 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"). ClinVar contains an entry for this variant (Variation ID: 1482165). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (rs779596439, gnomAD 0.01%). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 406 of the SLX4 protein (p.Glu406Gln).
Fulgent Genetics, Fulgent Genetics RCV002507748 SCV002814598 uncertain significance Fanconi anemia complementation group P 2022-03-30 criteria provided, single submitter clinical testing

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