ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1985C>T (p.Pro662Leu)

dbSNP: rs1554773491
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000542454 SCV000645224 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2017-06-13 criteria provided, single submitter clinical testing In summary, this variant has uncertain impact on DCLRE1C function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with a DCLRE1C-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with leucine at codon 662 of the DCLRE1C protein (p.Pro662Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine.

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