ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.3948_3962del (p.Pro1317_Pro1321del) (rs1302525912)

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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 RCV000768092 SCV000898984 uncertain significance Fanconi anemia, complementation group P 2017-12-05 criteria provided, single submitter clinical testing SLX4 NM_032444.2 exon 12 p.Pro1317_Pro1321del (c.3948_3962del): This variant has not been reported in the literature but is present in 1/17246 East Asian alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs116781836). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant represents an in-frame deletion of 5 amino acids at position 1317 and is not predicted to alter the reading frame. However, the effect of this variant on the protein is unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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