ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1192C>T (p.Pro398Ser)

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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 RCV002651224 SCV003517495 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 398 of the DCLRE1C protein (p.Pro398Ser). This variant is present in population databases (rs764820306, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with DCLRE1C-related conditions. 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 tolerated. 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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