ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1556C>T (p.Pro519Leu) (rs542791233)

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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 RCV000767949 SCV000898646 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency; Histiocytic medullary reticulosis 2018-01-26 criteria provided, single submitter clinical testing DCLRE1C NM_001033855.2 exon14 p.Pro519Leu (c.1556C>T):This variant has not been reported in the literature but is present in 15/30778 South Asian alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs542791233). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. Therefore, the clinical significance of this variant is uncertain.
Invitae RCV001247789 SCV001421232 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2019-08-02 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 519 of the DCLRE1C protein (p.Pro519Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs542791233, ExAC 0.04%). This variant has not been reported in the literature in individuals with DCLRE1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 625928). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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