ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.3842G>A (p.Gly1281Glu) (rs766299864)

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Total submissions: 1
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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 2019-09-03 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.

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