ClinVar Miner

Submissions for variant NM_001143992.2(WRAP53):c.550A>C (p.Ile184Leu) (rs776832907)

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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 RCV000768139 SCV000899094 uncertain significance Dyskeratosis congenita, autosomal recessive, 3 2018-11-09 criteria provided, single submitter clinical testing WRAP53 NM_018081.2 exon 3 p.Ile184Leu (c.550A>C): This variant has not been reported in the literature and is present in 0.02% (10/34592) of Latino alleles in the Genome Aggregation Database ( This variant amino acid Leucine (Leu) is present in several species, and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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