ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.3842G>A (p.Gly1281Glu)

dbSNP: rs766299864
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001027803 SCV001190416 uncertain significance Fanconi anemia complementation group P 2021-03-30 criteria provided, single submitter clinical testing SLX4 NM_032444.3 exon12 p.Gly1281Glu (c.3842G>A): This variant has not been reported in the literature and is present in 0.002% (1/34578) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/16-3639797-C-T). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV002552429 SCV003014981 uncertain significance Fanconi anemia 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 1281 of the SLX4 protein (p.Gly1281Glu). This variant is present in population databases (rs766299864, gnomAD 0.003%). 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: 827989). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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