ClinVar Miner

Submissions for variant NM_001143992.2(WRAP53):c.395C>A (p.Thr132Asn) (rs201340741)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000768138 SCV000407086 uncertain significance Dyskeratosis congenita, autosomal recessive, 3 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768138 SCV000899093 uncertain significance Dyskeratosis congenita, autosomal recessive, 3 2018-02-02 criteria provided, single submitter clinical testing WRAP53 NM_018081.2 exon 1 p.Thr132Asn (c.395C>A): This variant has not been reported in the literature but is present in 18/126570 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs201340741). This variant is present in ClinVar (Variation ID:325652). 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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